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

    Gene ID: 91624, updated on 4-Sep-2016
    Official Symbol
    NEXNprovided by HGNC
    Official Full Name
    nexilin F-actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29557
    See related
    Ensembl:ENSG00000162614 HPRD:11388; MIM:613121; Vega:OTTHUMG00000040533
    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]
    Orthologs
    Location:
    1p31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (77888515..77946329)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (78354200..78412009)

    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 NEXN antisense RNA 1 Neighboring gene far upstream element binding protein 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B4 Neighboring gene nitrilase family member 2 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC104234, MGC138865, MGC138866

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cytoskeleton organization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_001172309.1NP_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, DC412178, DQ464902
      Consensus CDS
      CCDS53335.1
      UniProtKB/Swiss-Prot
      Q0ZGT2
      UniProtKB/TrEMBL
      B4DDI0
      Related
      ENSP00000327363, ENST00000330010
      Conserved Domains (2) summary
      cd00096
      Location:535602
      Ig; Immunoglobulin domain
      pfam07679
      Location:518607
      I-set; Immunoglobulin I-set domain
    2. NM_144573.3NP_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
      Q0ZGT2
      Related
      ENSP00000333938, OTTHUMP00000038336, ENST00000334785, OTTHUMT00000097549
      Conserved Domains (2) summary
      cd00096
      Location:599666
      Ig; Immunoglobulin domain
      pfam07679
      Location:582671
      I-set; Immunoglobulin I-set domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      77888515..77946329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271324.4XP_005271381.1  

      See identical proteins and their annotated locations for XP_005271381.1

      UniProtKB/TrEMBL
      D3DQ79
      Related
      ENSP00000343928, OTTHUMP00000038339, ENST00000342754, OTTHUMT00000097553
      Conserved Domains (2) summary
      cd00096
      Location:535602
      Ig; Immunoglobulin domain
      pfam07679
      Location:518607
      I-set; Immunoglobulin I-set domain
    2. XM_005271326.3XP_005271383.1  

      Conserved Domains (2) summary
      cd00096
      Location:521588
      Ig; Immunoglobulin domain
      pfam07679
      Location:504593
      I-set; Immunoglobulin I-set domain
    3. XM_005271325.3XP_005271382.1  

      Conserved Domains (2) summary
      cd00096
      Location:525592
      Ig; Immunoglobulin domain
      pfam07679
      Location:508597
      I-set; Immunoglobulin I-set domain
    4. XM_005271322.3XP_005271379.1  

      Conserved Domains (2) summary
      cd00096
      Location:599666
      Ig; Immunoglobulin domain
      pfam07679
      Location:582671
      I-set; Immunoglobulin I-set domain
    5. XM_005271323.3XP_005271380.1  

      See identical proteins and their annotated locations for XP_005271380.1

      UniProtKB/Swiss-Prot
      Q0ZGT2
      Conserved Domains (2) summary
      cd00096
      Location:585652
      Ig; Immunoglobulin domain
      pfam07679
      Location:568657
      I-set; Immunoglobulin I-set domain
    6. XM_005271327.3XP_005271384.1  

      Conserved Domains (2) summary
      cd00096
      Location:460527
      Ig; Immunoglobulin domain
      pfam07679
      Location:443532
      I-set; Immunoglobulin I-set domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      78470589..78525920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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