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    NEXN nexilin F-actin binding protein [ Homo sapiens (human) ]

    Gene ID: 91624, updated on 23-Nov-2023

    Summary

    Official Symbol
    NEXNprovided by HGNC
    Official Full Name
    nexilin F-actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29557
    See related
    Ensembl:ENSG00000162614 MIM:613121; AllianceGenome:HGNC:29557
    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
    CMH20; NELIN
    Summary
    This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
    Expression
    Broad expression in heart (RPKM 72.6), prostate (RPKM 22.2) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NEXN in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (77888624..77943895)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (77727428..77782694)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (78354309..78409580)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitoguardin 1 Neighboring gene nuclear speckle splicing regulatory protein 1 pseudogene 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 25 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:78336231-78337101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1005 Neighboring gene NEXN antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:78374978-78375131 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1006 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:78431300-78431502 Neighboring gene far upstream element binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1228 Neighboring gene DnaJ heat shock protein family (Hsp40) member B4 Neighboring gene nitrilase family member 2 pseudogene

    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

    • MGC104234, MGC138865, MGC138866

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cytoskeleton organization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    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 plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016625.1 RefSeqGene

      Range
      5001..60381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_442

    mRNA and Protein(s)

    1. NM_001172309.2NP_001165780.1  nexilin isoform 2

      See identical proteins and their annotated locations for NP_001165780.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK293201, AK298565, BQ009808, DQ464902
      Consensus CDS
      CCDS53335.1
      UniProtKB/TrEMBL
      H7BXY5
      Related
      ENSP00000327363.8, ENST00000330010.12
      Conserved Domains (2) summary
      cd00096
      Location:535602
      Ig; Immunoglobulin domain
      pfam07679
      Location:518607
      I-set; Immunoglobulin I-set domain
    2. NM_144573.4NP_653174.3  nexilin isoform 1

      See identical proteins and their annotated locations for NP_653174.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF114264, BQ009808, DC412178, DQ464902
      Consensus CDS
      CCDS41351.1
      UniProtKB/Swiss-Prot
      A0PJ84, B4DPZ7, Q0D2H2, Q0ZGT2, Q14CC2, Q14CC3, Q16081, Q7Z2X0, Q96DL0, Q9Y2V1
      UniProtKB/TrEMBL
      H7BXY5
      Related
      ENSP00000333938.7, ENST00000334785.12
      Conserved Domains (2) summary
      cd00096
      Location:599666
      Ig; Immunoglobulin domain
      pfam07679
      Location:582671
      I-set; Immunoglobulin I-set domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      77888624..77943895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271322.5XP_005271379.1  nexilin isoform X1

      UniProtKB/TrEMBL
      H7BXY5
      Conserved Domains (2) summary
      cd00096
      Location:599666
      Ig; Immunoglobulin domain
      pfam07679
      Location:582671
      I-set; Immunoglobulin I-set domain
    2. XM_005271325.5XP_005271382.1  nexilin isoform X4

      UniProtKB/TrEMBL
      H7BXY5
      Conserved Domains (2) summary
      cd00096
      Location:525592
      Ig; Immunoglobulin domain
      pfam07679
      Location:508597
      I-set; Immunoglobulin I-set domain
    3. XM_005271323.5XP_005271380.1  nexilin isoform X2

      See identical proteins and their annotated locations for XP_005271380.1

      UniProtKB/TrEMBL
      H7BXY5
      Conserved Domains (2) summary
      cd00096
      Location:585652
      Ig; Immunoglobulin domain
      pfam07679
      Location:568657
      I-set; Immunoglobulin I-set domain
    4. XM_005271327.5XP_005271384.1  nexilin isoform X5

      Conserved Domains (2) summary
      cd00096
      Location:460527
      Ig; Immunoglobulin domain
      pfam07679
      Location:443532
      I-set; Immunoglobulin I-set domain
    5. XM_005271324.6XP_005271381.1  nexilin isoform X3

      See identical proteins and their annotated locations for XP_005271381.1

      UniProtKB/TrEMBL
      H7BXY5
      Related
      ENSP00000343928.5, ENST00000342754.5
      Conserved Domains (2) summary
      cd00096
      Location:535602
      Ig; Immunoglobulin domain
      pfam07679
      Location:518607
      I-set; Immunoglobulin I-set domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      77727428..77782694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339592.1XP_054195567.1  nexilin isoform X1

      UniProtKB/TrEMBL
      H7BXY5
    2. XM_054339595.1XP_054195570.1  nexilin isoform X4

      UniProtKB/TrEMBL
      H7BXY5
    3. XM_054339593.1XP_054195568.1  nexilin isoform X2

      UniProtKB/TrEMBL
      H7BXY5
    4. XM_054339596.1XP_054195571.1  nexilin isoform X5

    5. XM_054339594.1XP_054195569.1  nexilin isoform X3

      UniProtKB/TrEMBL
      H7BXY5