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DST dystonin [ Homo sapiens (human) ]

Gene ID: 667, updated on 23-Nov-2023

Summary

Official Symbol
DSTprovided by HGNC
Official Full Name
dystoninprovided by HGNC
Primary source
HGNC:HGNC:1090
See related
Ensembl:ENSG00000151914 MIM:113810; AllianceGenome:HGNC:1090
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
DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101
Summary
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in skin (RPKM 22.2), brain (RPKM 12.5) and 23 other tissues See more
Orthologs
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Genomic context

See DST in Genome Data Viewer
Location:
6p12.1
Exon count:
109
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (56457996..56954830, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (56299279..56793877, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (56322794..56819628, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene collagen type XXI alpha 1 chain Neighboring gene NANOG hESC enhancer GRCh37_chr6:56142823-56143330 Neighboring gene NANOG hESC enhancer GRCh37_chr6:56144052-56144553 Neighboring gene dihydrofolate reductase pseudogene 6 Neighboring gene regulator of chromosome condensation 2 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56399527-56400028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56400029-56400528 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:56406989-56407754 Neighboring gene MPRA-validated peak5860 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24703 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:56579434-56579994 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:56579995-56580556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56581759-56582299 Neighboring gene NANOG hESC enhancer GRCh37_chr6:56616684-56617267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17296 Neighboring gene NANOG hESC enhancer GRCh37_chr6:56624276-56624832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24704 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:56640200-56641045 Neighboring gene MPRA-validated peak5861 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56707357-56708225 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:56708226-56709093 Neighboring gene Sharpr-MPRA regulatory region 11401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24706 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92363 Neighboring gene DST antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92364 Neighboring gene ribosomal protein L17 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24707 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:56803197-56804396 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56818611-56819242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17300 Neighboring gene RNA, U6 small nuclear 626, pseudogene Neighboring gene BEN domain containing 6 Neighboring gene oligosaccharyltransferase complex subunit pseudogene 6 Neighboring gene ferritin heavy chain 1 pseudogene 15

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ46791, KIAA0465, KIAA1470, DKFZp564B2416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hemidesmosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intermediate filament cytoskeleton organization IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in intermediate filament cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in maintenance of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to wounding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retrograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in wound healing IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in H zone IEA
Inferred from Electronic Annotation
more info
 
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in basal plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in basement membrane TAS
Traceable Author Statement
more info
PubMed 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in focal adhesion HDA PubMed 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in hemidesmosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in hemidesmosome TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in microtubule plus-end IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus HDA PubMed 
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dystonin
Names
bullous pemphigoid antigen
bullous pemphigoid antigen 1
dystonia musculorum protein
hemidesmosomal plaque protein
trabeculin-beta

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_029322.2 RefSeqGene

    Range
    4799..501633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144769.5NP_001138241.1  dystonin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    UniProtKB/TrEMBL
    Q5T0V7
    Related
    ENSP00000393082.3, ENST00000449297.7
    Conserved Domains (8) summary
    smart00150
    Location:786877
    SPEC; Spectrin repeats
    COG0419
    Location:12231828
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:214316
    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 ...
    cd00051
    Location:52935355
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:44714686
    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; ...
    pfam02187
    Location:53715444
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:52945354
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:30483259
    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; ...
  2. NM_001144770.2NP_001138242.1  dystonin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    Consensus CDS
    CCDS75474.1
    UniProtKB/TrEMBL
    E7ETB9, F6QMI7
    Related
    ENSP00000307959.7, ENST00000312431.10
    Conserved Domains (8) summary
    smart00150
    Location:648739
    SPEC; Spectrin repeats
    COG0419
    Location:10851690
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:76178
    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 ...
    cd00051
    Location:51555217
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:43334548
    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; ...
    pfam02187
    Location:52335306
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:51565216
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:29103121
    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. NM_001374722.1NP_001361651.1  dystonin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    UniProtKB/Swiss-Prot
    B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
    Conserved Domains (12) summary
    pfam05483
    Location:12051480
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00243
    Location:74877565
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:819910
    SPEC; Spectrin repeats
    smart00250
    Location:17631794
    PLEC; Plectin repeat
    COG1196
    Location:38314631
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:208465
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:74127474
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:65906805
    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; ...
    cl02488
    Location:14051569
    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; ...
    pfam00681
    Location:19852025
    Plectin; Plectin repeat
    pfam17902
    Location:10871153
    SH3_10; SH3 domain
    pfam18373
    Location:11881265
    Spectrin_like; Spectrin like domain
  4. NM_001374729.1NP_001361658.1  dystonin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    Consensus CDS
    CCDS93935.1
    UniProtKB/Swiss-Prot
    B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
    UniProtKB/TrEMBL
    F8W9J4
    Related
    ENSP00000354508.3, ENST00000361203.7
    Conserved Domains (12) summary
    pfam05483
    Location:10331269
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    smart00250
    Location:15521583
    PLEC; Plectin repeat
    COG1196
    Location:36204420
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:35254
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:70927154
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:62706485
    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; ...
    cl02488
    Location:11941358
    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; ...
    pfam00681
    Location:17741814
    Plectin; Plectin repeat
    pfam02187
    Location:71697243
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam17902
    Location:876942
    SH3_10; SH3 domain
    pfam18373
    Location:9771054
    Spectrin_like; Spectrin like domain
  5. NM_001374730.1NP_001361659.1  dystonin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    Consensus CDS
    CCDS93934.1
    UniProtKB/TrEMBL
    E7ETB9
    Related
    ENSP00000359824.2, ENST00000370788.6
    Conserved Domains (11) summary
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    PHA03307
    Location:52205375
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0419
    Location:10451650
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG5069
    Location:35254
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:50065068
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:41844399
    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:15112304
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl02488
    Location:28703081
    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; ...
    pfam02187
    Location:50835157
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam17902
    Location:876942
    SH3_10; SH3 domain
    pfam18373
    Location:9771054
    Spectrin_like; Spectrin like domain
  6. NM_001374734.1NP_001361663.1  dystonin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    UniProtKB/Swiss-Prot
    B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
    Conserved Domains (12) summary
    pfam05483
    Location:12141489
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00243
    Location:74967574
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:828919
    SPEC; Spectrin repeats
    smart00250
    Location:17721803
    PLEC; Plectin repeat
    COG1196
    Location:38404640
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:217474
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:74217483
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:65996814
    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; ...
    cl02488
    Location:14141578
    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; ...
    pfam00681
    Location:19942034
    Plectin; Plectin repeat
    pfam17902
    Location:10961162
    SH3_10; SH3 domain
    pfam18373
    Location:11971274
    Spectrin_like; Spectrin like domain
  7. NM_001374736.1NP_001361665.1  dystonin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    Consensus CDS
    CCDS93936.1
    UniProtKB/Swiss-Prot
    B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
    UniProtKB/TrEMBL
    A0A7P0T890
    Related
    ENSP00000505098.1, ENST00000680361.1
    Conserved Domains (12) summary
    pfam05483
    Location:12051480
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:819910
    SPEC; Spectrin repeats
    smart00250
    Location:17631794
    PLEC; Plectin repeat
    COG1196
    Location:38314631
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:208465
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:74127474
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:65906805
    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; ...
    cl02488
    Location:14051569
    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; ...
    pfam00681
    Location:19852025
    Plectin; Plectin repeat
    pfam02187
    Location:74897563
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam17902
    Location:10871153
    SH3_10; SH3 domain
    pfam18373
    Location:11881265
    Spectrin_like; Spectrin like domain
  8. NM_001386100.1NP_001373029.1  dystonin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    UniProtKB/TrEMBL
    E7ETB9
    Conserved Domains (11) summary
    pfam05483
    Location:11771813
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00243
    Location:51905262
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    COG1196
    Location:15082334
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00051
    Location:51155177
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:42934508
    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; ...
    pfam17902
    Location:876942
    SH3_10; SH3 domain
    pfam18373
    Location:9771054
    Spectrin_like; Spectrin like domain
    cd21236
    Location:20147
    CH_DYST_rpt1; first calponin homology (CH) domain found in dystonin and similar proteins
    cd21239
    Location:152255
    CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins
    cl02488
    Location:28703081
    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; ...
  9. NM_001723.7NP_001714.1  dystonin isoform 1e precursor

    See identical proteins and their annotated locations for NP_001714.1

    Status: REVIEWED

    Source sequence(s)
    BU685436, DA462108, L11690
    Consensus CDS
    CCDS4959.1
    UniProtKB/Swiss-Prot
    Q03001
    Related
    ENSP00000359801.6, ENST00000370765.11
    Conserved Domains (8) summary
    pfam05483
    Location:7111373
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:282373
    SPEC; Spectrin repeats
    smart00250
    Location:25152552
    PLEC; Plectin repeat
    cd00176
    Location:375557
    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; ...
    pfam00681
    Location:24782517
    Plectin; Plectin repeat
    pfam03528
    Location:15721888
    Rabaptin; Rabaptin
    pfam09728
    Location:14301722
    Taxilin; Myosin-like coiled-coil protein
    cl02488
    Location:8681032
    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. NM_015548.5NP_056363.2  dystonin isoform 1eA precursor

    See identical proteins and their annotated locations for NP_056363.2

    Status: REVIEWED

    Source sequence(s)
    AF400226, AK055189, AL137008, AL512448, CD367397, DA462108, L11690
    Consensus CDS
    CCDS47443.1
    UniProtKB/TrEMBL
    E7ETB9
    Related
    ENSP00000244364.6, ENST00000244364.10
    Conserved Domains (7) summary
    smart00150
    Location:282373
    SPEC; Spectrin repeats
    COG0419
    Location:7191324
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00051
    Location:47894851
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:39674182
    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; ...
    pfam02187
    Location:48674940
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:47904850
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:25442755
    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; ...
  11. NM_183380.4NP_899236.1  dystonin isoform 1

    See identical proteins and their annotated locations for NP_899236.1

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    UniProtKB/TrEMBL
    E7ETB9, E9PHM6
    Related
    ENSP00000400883.3, ENST00000421834.7
    Conserved Domains (8) summary
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    COG0419
    Location:10451650
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:36138
    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 ...
    cd00051
    Location:51155177
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:42934508
    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; ...
    pfam02187
    Location:51935266
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:51165176
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:28703081
    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_2023_10

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
    56457996..56954830 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    56299279..56793877 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001144771.1: Suppressed sequence

    Description
    NM_001144771.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_020388.3: Suppressed sequence

    Description
    NM_020388.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.