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    SYNE1 spectrin repeat containing nuclear envelope protein 1 [ Homo sapiens (human) ]

    Gene ID: 23345, updated on 12-Nov-2024

    Summary

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    Official Symbol
    SYNE1provided by HGNC
    Official Full Name
    spectrin repeat containing nuclear envelope protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17089
    See related
    Ensembl:ENSG00000131018 MIM:608441; AllianceGenome:HGNC:17089
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
    Summary
    This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SYNE1 in Genome Data Viewer
    Location:
    6q25.2
    Exon count:
    153
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (152121687..152637362, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (153322984..153838674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (152442822..152958497, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151969745-151970311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25284 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152017738-152017865 Neighboring gene uncharacterized LOC107986529 Neighboring gene estrogen receptor 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:152154278-152154778 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:152221566-152222765 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152375213-152376412 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152414054-152414235 Neighboring gene Sharpr-MPRA regulatory regions 5277 and 6602 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:152419735-152420236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17689 Neighboring gene MPRA-validated peak6220 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:152542272-152543471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25288 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:152630775-152631974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17690 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152706655-152707854 Neighboring gene uncharacterized LOC124901437 Neighboring gene SYNE1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 223 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152811684-152812883 Neighboring gene NANOG hESC enhancer GRCh37_chr6:152893840-152894402 Neighboring gene Nanog homeobox pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25289 Neighboring gene uncharacterized LOC105378061 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 16 Neighboring gene MYC target 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].
      Title: [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].
    2. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
      Title: Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
    3. SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer.
      Title: SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer.
    4. Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
      Title: Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
    5. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
      Title: Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
    6. Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.
      Title: Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.
    7. SYNE1-QK1 SNPs, G x G and G x E interactions on the risk of hyperlipidaemia.
      Title: SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia.
    8. Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
      Title: Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
    9. Three novel mutations are described in SYNE1-ataxia patients.
      Title: SYNE1-ataxia: Novel genotypic and phenotypic findings.
    10. SYNE1 gene mutations were identified as a cause of late-onset pure cerebellar syndrome
      Title: Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.
    Submit: New GeneRIF Correction See all GeneRIFs (60)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Arthrogryposis multiplex congenita 3, myogenic type
    MedGen: C5193121 OMIM: 618484 GeneReviews: Not available
    		not available
    Autosomal recessive ataxia, Beauce type
    MedGen: C1853116 OMIM: 610743 GeneReviews: Hereditary Ataxia Overview, SYNE1 Deficiency
    		not available
    Emery-Dreifuss muscular dystrophy 4, autosomal dominant
    MedGen: C2751807 OMIM: 612998 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    EBI GWAS Catalog
    Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30878, FLJ41140, KIAA0796, KIAA1262, KIAA1756, DKFZp781J13156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cytoskeleton-nuclear membrane anchor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lamin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mini excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nuclear matrix anchoring at nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleus organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of nucleus organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendritic spine head IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of meiotic nuclear membrane microtubule tethering complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic endocytic zone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nesprin-1
    Names
    CPG2 full length
    KASH domain-containing protein 1
    enaptin
    myocyte nuclear envelope protein 1
    nesprin 1
    spectrin repeat containing, nuclear envelope 1
    synaptic nuclear envelope protein 1
    synaptic nuclei expressed gene 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012855.2 RefSeqGene

      Range
      5038..520716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_427

    mRNA and Protein(s)

    1. NM_001347701.2 → NP_001334630.1  nesprin-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks a significant portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK304825, AL078582, AL138832, AL450401
      Consensus CDS
      CCDS94022.1
      UniProtKB/TrEMBL
      B4E3R1, B7Z9Y6
      Related
      ENSP00000516090.1, ENST00000536990.5

    2. NM_001347702.2 → NP_001334631.1  nesprin-1 isoform 4 (nesprin-1 alpha 2)

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a distinct exon in the 5' UTR and 5' coding region and lacks a significant portion of the 5' coding region, compared to variant 1. The resulting isoform (2, also known as nesprin-1 alpha 2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL078582, AL138832, AY184203, BX501371
      Consensus CDS
      CCDS87458.1
      UniProtKB/TrEMBL
      F8WAI0, Q5JV20
      Related
      ENSP00000346701.4, ENST00000354674.5

    3. NM_033071.5 → NP_149062.2  nesprin-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AL049548, AL078582, AL136079, AL138832, AL357081, AL450401, AL589963, AL591507
      UniProtKB/TrEMBL
      A0A0C4DG40
      Related
      ENSP00000396024.1, ENST00000423061.6
      Conserved Domains (7) summary
      COG1196
      Location:1423 → 2152
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00176
      Location:7929 → 8139
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:4892 → 5727
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10541
      Location:8717 → 8748
      KASH; Nuclear envelope localization domain
      cd21241
      Location:24 → 143
      CH_SYNE1_rpt1; first calponin homology (CH) domain found in synaptic nuclear envelope protein 1 and similar proteins
      cd21243
      Location:182 → 290
      CH_SYNE1_rpt2; second calponin homology (CH) domain found in synaptic nuclear envelope protein 1 (SYNE-1) and similar proteins
      cl02488
      Location:7090 → 7278
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    4. NM_182961.4 → NP_892006.3  nesprin-1 isoform 1 (nesprin-1 giant or enaptin)

      See identical proteins and their annotated locations for NP_892006.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1, also know as nesprin-1 giant or enaptin).
      Source sequence(s)
      AF495910, AL078582, AL136079, AL138832, AL357081, AL589963
      Consensus CDS
      CCDS5236.2
      UniProtKB/Swiss-Prot
      B3W695, E7EQI5, H0Y4C0, O94890, Q3ZCV0, Q5JV19, Q5JV22, Q8N9P7, Q8NF91, Q8TCP1, Q8WWW6, Q8WWW7, Q8WXF6, Q96N17, Q9C0A7, Q9H525, Q9H526, Q9NS36, Q9NU50, Q9UJ06, Q9UJ07, Q9ULF8
      UniProtKB/TrEMBL
      A0A0C4DG40
      Related
      ENSP00000356224.5, ENST00000367255.10
      Conserved Domains (7) summary
      COG1511
      Location:6417 → 6939
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cd00014
      Location:28 → 134
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8000 → 8210
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2333 → 3116
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:180 → 278
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8765 → 8796
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7161 → 7349
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      152121687..152637362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418508.1 → XP_047274464.1  nesprin-1 isoform X25

    2. XM_017010610.2 → XP_016866099.1  nesprin-1 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 134
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8005 → 8215
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5937 → 6723
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:180 → 278
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8807 → 8838
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7166 → 7354
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    3. XM_017010609.2 → XP_016866098.1  nesprin-1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5944 → 6730
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8814 → 8845
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    4. XM_047418504.1 → XP_047274460.1  nesprin-1 isoform X12

    5. XM_047418501.1 → XP_047274457.1  nesprin-1 isoform X5

    6. XM_047418503.1 → XP_047274459.1  nesprin-1 isoform X9

    7. XM_017010608.2 → XP_016866097.1  nesprin-1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5944 → 6730
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8814 → 8845
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    8. XM_047418510.1 → XP_047274466.1  nesprin-1 isoform X27

    9. XM_006715414.2 → XP_006715477.1  nesprin-1 isoform X12

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 134
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7988 → 8198
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2316 → 3099
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:180 → 278
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8790 → 8821
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7149 → 7337
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    10. XM_047418507.1 → XP_047274463.1  nesprin-1 isoform X25

    11. XM_006715409.2 → XP_006715472.1  nesprin-1 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 134
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8005 → 8215
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5937 → 6723
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:180 → 278
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8807 → 8838
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7166 → 7354
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    12. XM_006715411.2 → XP_006715474.1  nesprin-1 isoform X9

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7995 → 8205
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5927 → 6713
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8797 → 8828
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7156 → 7344
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    13. XM_011535643.2 → XP_011533945.1  nesprin-1 isoform X24

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7957 → 8167
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5889 → 6675
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8759 → 8790
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7118 → 7306
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    14. XM_006715422.2 → XP_006715485.1  nesprin-1 isoform X23

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7959 → 8169
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5891 → 6677
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8761 → 8792
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7120 → 7308
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    15. XM_006715421.3 → XP_006715484.1  nesprin-1 isoform X22

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7960 → 8170
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5892 → 6678
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8762 → 8793
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7121 → 7309
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    16. XM_017010615.2 → XP_016866104.1  nesprin-1 isoform X30

      UniProtKB/TrEMBL
      A0A0C4DG40

    17. XM_017010614.2 → XP_016866103.1  nesprin-1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DG40

    18. XM_047418511.1 → XP_047274467.1  nesprin-1 isoform X28

    19. XM_047418509.1 → XP_047274465.1  nesprin-1 isoform X26

    20. XM_006715420.3 → XP_006715483.1  nesprin-1 isoform X20

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7961 → 8171
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8763 → 8794
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7122 → 7310
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    21. XM_047418512.1 → XP_047274468.1  nesprin-1 isoform X36

    22. XM_047418506.1 → XP_047274462.1  nesprin-1 isoform X19

    23. XM_006715417.3 → XP_006715480.1  nesprin-1 isoform X18

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (7) summary
      COG1511
      Location:6382 → 6904
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:7965 → 8175
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8767 → 8798
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7126 → 7314
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    24. XM_017010618.2 → XP_016866107.1  nesprin-1 isoform X35

      UniProtKB/TrEMBL
      A0A0C4DG40

    25. XM_006715416.3 → XP_006715479.1  nesprin-1 isoform X17

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (7) summary
      COG1511
      Location:6424 → 6946
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8007 → 8217
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8772 → 8803
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7168 → 7356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    26. XM_047418505.1 → XP_047274461.1  nesprin-1 isoform X13

    27. XM_006715412.3 → XP_006715475.1  nesprin-1 isoform X10

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      COG1196
      Location:5941 → 6721
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8007 → 8217
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8795 → 8826
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7168 → 7356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    28. XM_011535642.3 → XP_011533944.1  nesprin-1 isoform X4

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      COG1196
      Location:5941 → 6721
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8007 → 8217
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8809 → 8840
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7168 → 7356
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    29. XM_006715408.3 → XP_006715471.1  nesprin-1 isoform X3

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8008 → 8218
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5946 → 6726
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8810 → 8841
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7169 → 7357
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    30. XM_017010617.2 → XP_016866106.1  nesprin-1 isoform X34

      UniProtKB/TrEMBL
      A0A0C4DG40

    31. XM_017010613.2 → XP_016866102.1  nesprin-1 isoform X16

      UniProtKB/TrEMBL
      A0A0C4DG40

    32. XM_047418502.1 → XP_047274458.1  nesprin-1 isoform X8

    33. XM_011535641.3 → XP_011533943.1  nesprin-1 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8011 → 8221
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5944 → 6729
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8813 → 8844
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7172 → 7360
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    34. XM_006715425.3 → XP_006715488.1  nesprin-1 isoform X33

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (5) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      cl02488
      Location:7469 → 7680
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    35. XM_006715415.3 → XP_006715478.1  nesprin-1 isoform X15

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8777 → 8808
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    36. XM_017010616.2 → XP_016866105.1  nesprin-1 isoform X32

      UniProtKB/TrEMBL
      A0A0C4DG40

    37. XM_006715413.3 → XP_006715476.1  nesprin-1 isoform X11

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5944 → 6730
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8791 → 8822
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    38. XM_006715424.3 → XP_006715487.1  nesprin-1 isoform X31

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (5) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      cl02488
      Location:7469 → 7680
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    39. XM_006715410.3 → XP_006715473.1  nesprin-1 isoform X7

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5944 → 6730
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8800 → 8831
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    40. XM_006715423.3 → XP_006715486.1  nesprin-1 isoform X29

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (5) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:2340 → 3123
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    41. XM_006715407.2 → XP_006715470.1  nesprin-1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (6) summary
      cd00014
      Location:28 → 141
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:8012 → 8222
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:5944 → 6730
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:187 → 285
      CH; Calponin homology (CH) domain
      pfam10541
      Location:8814 → 8845
      KASH; Nuclear envelope localization domain
      cl02488
      Location:7173 → 7361
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    42. XM_017010612.2 → XP_016866101.1  nesprin-1 isoform X14

      UniProtKB/TrEMBL
      A0A0C4DG40

    43. XM_017010611.3 → XP_016866100.1  nesprin-1 isoform X6

      UniProtKB/TrEMBL
      A0A0C4DG40

    44. XM_017010619.2 → XP_016866108.1  nesprin-1 isoform X37

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (4) summary
      cd00176
      Location:7437 → 7647
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:1765 → 2548
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10541
      Location:8239 → 8270
      KASH; Nuclear envelope localization domain
      cl02488
      Location:1948 → 2164
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    45. XM_011535644.2 → XP_011533946.1  nesprin-1 isoform X37

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (4) summary
      cd00176
      Location:7437 → 7647
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:1765 → 2548
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10541
      Location:8239 → 8270
      KASH; Nuclear envelope localization domain
      cl02488
      Location:1948 → 2164
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    46. XM_011535645.3 → XP_011533947.1  nesprin-1 isoform X38

      UniProtKB/TrEMBL
      A0A0C4DG40
      Conserved Domains (4) summary
      cd00176
      Location:7268 → 7478
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:1596 → 2379
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10541
      Location:8070 → 8101
      KASH; Nuclear envelope localization domain
      cl02488
      Location:1779 → 1995
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    47. XM_047418513.1 → XP_047274469.1  nesprin-1 isoform X39

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      153322984..153838674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354908.1 → XP_054210883.1  nesprin-1 isoform X25

    2. XM_054354886.1 → XP_054210861.1  nesprin-1 isoform X5

    3. XM_054354880.1 → XP_054210855.1  nesprin-1 isoform X1

    4. XM_054354894.1 → XP_054210869.1  nesprin-1 isoform X12

    5. XM_054354884.1 → XP_054210859.1  nesprin-1 isoform X5

    6. XM_054354891.1 → XP_054210866.1  nesprin-1 isoform X9

    7. XM_054354879.1 → XP_054210854.1  nesprin-1 isoform X1

    8. XM_054354910.1 → XP_054210885.1  nesprin-1 isoform X27

    9. XM_054354907.1 → XP_054210882.1  nesprin-1 isoform X25

    10. XM_054354885.1 → XP_054210860.1  nesprin-1 isoform X5

    11. XM_054354890.1 → XP_054210865.1  nesprin-1 isoform X9

    12. XM_054354906.1 → XP_054210881.1  nesprin-1 isoform X24

    13. XM_054354905.1 → XP_054210880.1  nesprin-1 isoform X23

    14. XM_054354904.1 → XP_054210879.1  nesprin-1 isoform X22

    15. XM_054354913.1 → XP_054210888.1  nesprin-1 isoform X30

    16. XM_054354903.1 → XP_054210878.1  nesprin-1 isoform X21

    17. XM_054354911.1 → XP_054210886.1  nesprin-1 isoform X28

    18. XM_054354909.1 → XP_054210884.1  nesprin-1 isoform X26

    19. XM_054354902.1 → XP_054210877.1  nesprin-1 isoform X20

    20. XM_054354919.1 → XP_054210894.1  nesprin-1 isoform X36

    21. XM_054354901.1 → XP_054210876.1  nesprin-1 isoform X19

    22. XM_054354900.1 → XP_054210875.1  nesprin-1 isoform X18

    23. XM_054354918.1 → XP_054210893.1  nesprin-1 isoform X35

    24. XM_054354899.1 → XP_054210874.1  nesprin-1 isoform X17

    25. XM_054354895.1 → XP_054210870.1  nesprin-1 isoform X13

    26. XM_054354892.1 → XP_054210867.1  nesprin-1 isoform X10

    27. XM_054354883.1 → XP_054210858.1  nesprin-1 isoform X4

    28. XM_054354882.1 → XP_054210857.1  nesprin-1 isoform X3

    29. XM_054354917.1 → XP_054210892.1  nesprin-1 isoform X34

    30. XM_054354898.1 → XP_054210873.1  nesprin-1 isoform X16

    31. XM_054354889.1 → XP_054210864.1  nesprin-1 isoform X8

    32. XM_054354881.1 → XP_054210856.1  nesprin-1 isoform X2

    33. XM_054354916.1 → XP_054210891.1  nesprin-1 isoform X33

    34. XM_054354897.1 → XP_054210872.1  nesprin-1 isoform X15

    35. XM_054354915.1 → XP_054210890.1  nesprin-1 isoform X32

    36. XM_054354893.1 → XP_054210868.1  nesprin-1 isoform X11

    37. XM_054354914.1 → XP_054210889.1  nesprin-1 isoform X31

    38. XM_054354888.1 → XP_054210863.1  nesprin-1 isoform X7

    39. XM_054354912.1 → XP_054210887.1  nesprin-1 isoform X29

    40. XM_054354878.1 → XP_054210853.1  nesprin-1 isoform X1

    41. XM_054354887.1 → XP_054210862.1  nesprin-1 isoform X6

    42. XM_054354896.1 → XP_054210871.1  nesprin-1 isoform X14

    43. XM_054354920.1 → XP_054210895.1  nesprin-1 isoform X37

    44. XM_054354921.1 → XP_054210896.1  nesprin-1 isoform X37

    45. XM_054354922.1 → XP_054210897.1  nesprin-1 isoform X38

    46. XM_054354923.1 → XP_054210898.1  nesprin-1 isoform X39

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099267.1: Suppressed sequence

      Description
      NM_001099267.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001134379.1: Suppressed sequence

      Description
      NM_001134379.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    3. NM_015293.2: Suppressed sequence

      Description
      NM_015293.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    4. NM_133650.2: Suppressed sequence

      Description
      NM_133650.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NF91.4 GenPept UniProtKB/Swiss-Prot:Q8NF91

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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