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

Gene ID: 91624, updated on 11-Sep-2019

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
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

Genomic context

See NEXN in Genome Data Viewer
Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (77888515..77948643)
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

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cytoskeleton organization IEP
Inferred from Expression Pattern
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    ENSP00000327363.8, ENST00000330010.12
    Conserved Domains (2) summary
    cd00096
    Location:535602
    Ig; Immunoglobulin domain
    pfam07679
    Location:518607
    I-set; Immunoglobulin I-set domain
  2. NM_144573.3NP_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
    ENSP00000333938.7, ENST00000334785.11
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    77888515..77948643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271324.5XP_005271381.1  nexilin isoform X3

    See identical proteins and their annotated locations for 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
  2. XM_005271326.4XP_005271383.1  nexilin isoform X5

    Conserved Domains (2) summary
    cd00096
    Location:521588
    Ig; Immunoglobulin domain
    pfam07679
    Location:504593
    I-set; Immunoglobulin I-set domain
  3. XM_005271322.4XP_005271379.1  nexilin isoform X1

    Conserved Domains (2) summary
    cd00096
    Location:599666
    Ig; Immunoglobulin domain
    pfam07679
    Location:582671
    I-set; Immunoglobulin I-set domain
  4. XM_005271325.4XP_005271382.1  nexilin isoform X4

    Conserved Domains (2) summary
    cd00096
    Location:525592
    Ig; Immunoglobulin domain
    pfam07679
    Location:508597
    I-set; Immunoglobulin I-set domain
  5. XM_005271323.4XP_005271380.1  nexilin isoform X2

    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_005271327.4XP_005271384.1  nexilin isoform X6

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