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

Gene ID: 91624, updated on 21-Nov-2014
Official Symbol
NEXNprovided by HGNC
Official Full Name
nexilin (F actin binding protein)provided 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]
See NEXN in Epigenomics, MapViewer
Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (77888515..77946324)
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 family with sequence similarity 73, member A Neighboring gene axin interactor, dorsalization associated pseudogene Neighboring gene nuclear speckle splicing regulatory protein 1 pseudogene 1 Neighboring gene NEXN antisense RNA 1 Neighboring gene far upstream element (FUSE) binding protein 1 Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 4

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 
calmodulin-dependent protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT regulation of apoptotic process 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 

    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 proteins identical to 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/TrEMBL
    B4DDI0
    UniProtKB/Swiss-Prot
    Q0ZGT2
    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 proteins identical to 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
    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 106

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

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    76485827..76541199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    77888515..77946324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271326.1XP_005271383.1  

    Conserved Domains (2) summary
    cd00096
    Location:521588
    Ig; Immunoglobulin domain
    pfam07679
    Location:504593
    I-set; Immunoglobulin I-set domain
  2. XM_005271322.1XP_005271379.1  

    Conserved Domains (2) summary
    cd00096
    Location:599666
    Ig; Immunoglobulin domain
    pfam07679
    Location:582671
    I-set; Immunoglobulin I-set domain
  3. XM_005271325.1XP_005271382.1  

    Conserved Domains (2) summary
    cd00096
    Location:525592
    Ig; Immunoglobulin domain
    pfam07679
    Location:508597
    I-set; Immunoglobulin I-set domain
  4. XM_005271323.1XP_005271380.1  

    See proteins identical to 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
  5. XM_005271327.1XP_005271384.1  

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

    See proteins identical to XP_005271381.1

    UniProtKB/TrEMBL
    D3DQ79
    Conserved Domains (2) summary
    cd00096
    Location:535602
    Ig; Immunoglobulin domain
    pfam07679
    Location:518607
    I-set; Immunoglobulin I-set domain

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

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