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

Gene ID: 3672, updated on 18-Sep-2024

Summary

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; AllianceGenome:HGNC:6134
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
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Genomic context

See ITGA1 in Genome Data Viewer
Location:
5q11.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (52787916..52959209)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (53615621..53786944)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52083750..52255039)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378962 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:51760029-51760269 Neighboring gene major facilitator superfamily domain containing 4B pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:51940949-51941189 Neighboring gene PELO antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr5:52069838-52070355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22544 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:52096458-52097157 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:52095759-52096457 Neighboring gene pelota mRNA surveillance and ribosome rescue factor Neighboring gene B3GNTL1 pseudogene 1 Neighboring gene ribosomal protein L17 pseudogene 21 Neighboring gene ITGA2 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:52283322-52284521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16003 Neighboring gene uncharacterized LOC124900974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16004 Neighboring gene integrin subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16005 Neighboring gene molybdenum cofactor synthesis 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Phenotypes

EBI GWAS Catalog

Description
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
EBI GWAS Catalog
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
EBI GWAS Catalog
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
EBI GWAS Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables collagen binding TAS
Traceable Author Statement
more info
PubMed 
enables collagen binding involved in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion mediated by integrin IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell-matrix adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular extravasation IEA
Inferred from Electronic Annotation
more info
 
involved_in integrin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in vasodilation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in basal part of cell IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface HDA PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular exosome HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
part_of integrin alpha1-beta1 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of integrin alpha1-beta1 complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of integrin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of integrin complex TAS
Traceable Author Statement
more info
PubMed 
located_in membrane HDA PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
integrin alpha-1
Names
CD49 antigen-like family member A
VLA-1
laminin and collagen receptor
very late activation protein 1
very late antigen-1

NCBI Reference Sequences (RefSeq)

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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_181501.2NP_852478.1  integrin alpha-1 precursor

    See identical proteins and their annotated locations for NP_852478.1

    Status: REVIEWED

    Source sequence(s)
    AC022133, AC025180, AC026230, AC027326, KF457900, KF510907
    Consensus CDS
    CCDS3955.1
    UniProtKB/Swiss-Prot
    B2RNU0, P56199
    UniProtKB/TrEMBL
    B4DTY8
    Related
    ENSP00000282588.5, ENST00000282588.7
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    52787916..52959209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    53615621..53786944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)