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ITGA1 integrin subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 3672, updated on 27-Nov-2017
Official Symbol
ITGA1provided by HGNC
Official Full Name
integrin subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:6134
See related
Ensembl:ENSG00000213949 MIM:192968; Vega:OTTHUMG00000131163
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
VLA1; CD49a
Summary
This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 48.2), placenta (RPKM 40.6) and 19 other tissues See more
Orthologs
Location:
5q11.2
Exon count:
29
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (52788302..52953655)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52084136..52249485)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378963 Neighboring gene uncharacterized LOC105378964 Neighboring gene pelota mRNA surveillance and ribosome rescue factor Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 1 Neighboring gene ribosomal protein L17 pseudogene 21 Neighboring gene integrin subunit alpha 2 Neighboring gene molybdenum cofactor synthesis 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
NHGRI GWA Catalog
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
NHGRI GWA Catalog
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.
NHGRI GWA Catalog
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  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
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  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
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  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
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  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
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  • Nanoparticle-mediated activation of receptor signaling, organism-specific biosystem (from WikiPathways)
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  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
collagen binding TAS
Traceable Author Statement
more info
PubMed 
collagen binding involved in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular extravasation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
basal part of cell IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
integrin alpha1-beta1 complex IDA
Inferred from Direct Assay
more info
PubMed 
integrin complex TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
integrin alpha-1
Names
CD49 antigen-like family member A
VLA-1
laminin and collagen receptor
very late activation protein 1

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.

mRNA and Protein(s)

  1. NM_181501.1NP_852478.1  integrin alpha-1 precursor

    See identical proteins and their annotated locations for NP_852478.1

    Status: REVIEWED

    Source sequence(s)
    BC050277
    Consensus CDS
    CCDS3955.1
    UniProtKB/Swiss-Prot
    P56199
    Related
    ENSP00000282588.5, OTTHUMP00000161814, ENST00000282588.6, OTTHUMT00000253855
    Conserved Domains (3) summary
    smart00191
    Location:568621
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:171351
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:6641056
    Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

    Range
    52788302..52953655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    52086786..52252111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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