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

    Gene ID: 3672, updated on 27-Nov-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
    NEW
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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
    • 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 phosphatase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

    NEW Try the new Transcript table

    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)