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    ITGAV integrin subunit alpha V [ Homo sapiens (human) ]

    Gene ID: 3685, updated on 15-Jul-2024

    Summary

    Official Symbol
    ITGAVprovided by HGNC
    Official Full Name
    integrin subunit alpha Vprovided by HGNC
    Primary source
    HGNC:HGNC:6150
    See related
    Ensembl:ENSG00000138448 MIM:193210; AllianceGenome:HGNC:6150
    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
    CD51; MSK8; VNRA; VTNR
    Summary
    The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 45.9), ovary (RPKM 36.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ITGAV in Genome Data Viewer
    Location:
    2q32.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (186590056..186680901)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (187079132..187170024)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (187454783..187545628)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:187406725-187407234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:187407235-187407742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12167 Neighboring gene uncharacterized LOC124906105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16844 Neighboring gene Sharpr-MPRA regulatory region 6200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12169 Neighboring gene family with sequence similarity 171 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:187599004-187599760 Neighboring gene zinc finger SWIM-type containing 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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Tat complexes with gp120 to induce entry of VLPs expressing R5- or X4-tropic Env into MDDCs, which involves alpha5beta1, alpha5beta3, and alpha5beta5 integrins PubMed
    env HIV-1 gp120 interacts with CD4 and alphavbeta3 in peripheral blood monocyte-derived macrophages; neutralizing antibodies against the alphavbeta3 integrin interfere with the coprecipitation of alphavbeta3 with an anti-gp120 antibody PubMed
    Tat tat HIV-1 Tat complexes with gp120 to induce entry of VLPs expressing R5- or X4-tropic Env into MDDCs, which involves alpha5beta1, alpha5beta3, and alpha5beta5 integrins PubMed
    tat Endothelial cell adherent to HIV-1 Tat induces rearrangement of actin cytoskeleton and is dependent on integrin alpha5beta3 PubMed
    tat Sialic acid is required for signal transduction triggered by HIV-1 Tat/integrin alpha5beta3 interaction in endothelial cells PubMed
    tat Sialic acid (NeuAc)-binding lectin from Maakia amurensis binds the NeuAc residues of integrin alpha5beta3 and inhibits the interaction of the integrin with the basic domain of HIV-1 Tat PubMed
    tat HIV-1 Tat exerts several pleiotropic effects by interacting with different cellular receptors, including integrin alpha(v)beta3, which triggers the activation of focal adhesion kinase, RhoA and pp60src PubMed
    tat IFN-gamma interacts with HIV-1 Tat to induce endothelial cells to proliferate and invade the extracellular matrix by upregulating the receptors for Tat (integrins alpha-5-beta-1 and alpha-v-beta-3), suggesting Tat and IFN-gamma play major roles in AIDS-KS PubMed
    tat The arginine-glycine-aspartic acid (RGD) sequence present at the carboxy-terminal of HIV-1 Tat mediates vascular cell and monocyte migration and invasion by binding to the alpha-5-beta-1 and alpha-v-beta-3 integrins PubMed
    tat The RGD-containing domain of exogenous HIV-1 Tat inhibits the engulfment of apoptotic bodies by dendritic cells through an interaction with integrin alpha v beta 3 PubMed
    tat HIV-1 Tat induces angiogenesis and cooperates in the development of AIDS-associated Kaposi sarcoma as a result of interactions with integrins alpha-5-beta-1 and alpha-v-beta 3 PubMed
    tat Interaction of HIV-1 Tat with alpha 5, beta 1, and alpha v subunits of surface integrin receptors mediates activation of CD4+ T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686A08142

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to C-X3-C chemokine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables coreceptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables extracellular matrix binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellular matrix protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to fibroblast growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fibronectin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to insulin-like growth factor I binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to neuregulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to opsonin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protease binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to protein kinase C binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transforming growth factor beta binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in angiogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in apolipoprotein A-I-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic cell clearance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in apoptotic cell clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endodermal cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in entry into host cell by a symbiont-containing vacuole NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway in absence of ligand ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heterotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in integrin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of entry of bacterium into host cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipoprotein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of low-density lipoprotein receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of macrophage derived foam cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of small GTPase mediated signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in symbiont entry into host cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in symbiont entry into host cell TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transforming growth factor beta production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing, spreading of epidermal cells NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of alphav-beta3 integrin-HMGB1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of alphav-beta3 integrin-IGF-1-IGF1R complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of alphav-beta3 integrin-PKCalpha complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cell surface HDA PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    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 filopodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alphav-beta1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin alphav-beta3 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alphav-beta3 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin alphav-beta5 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alphav-beta5 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin alphav-beta6 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alphav-beta6 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin alphav-beta8 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alphav-beta8 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of integrin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in lamellipodium membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microvillus membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    integrin alpha-V
    Names
    antigen identified by monoclonal antibody L230
    integrin alphaVbeta3
    integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
    vitronectin receptor subunit alpha

    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_001144999.3NP_001138471.2  integrin alpha-V isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1. It is not known whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AC017101
      Consensus CDS
      CCDS46471.1
      UniProtKB/TrEMBL
      A5YM53
      Related
      ENSP00000404291.2, ENST00000433736.6
      Conserved Domains (4) summary
      smart00191
      Location:321375
      Int_alpha; Integrin alpha (beta-propellor repeats)
      sd00039
      Location:80137
      7WD40; WD40 repeat [structural motif]
      pfam08441
      Location:421868
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:175225
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
    2. NM_001145000.3NP_001138472.2  integrin alpha-V isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1. It is not known whether this isoform (3) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AC017101
      Consensus CDS
      CCDS46470.1
      UniProtKB/TrEMBL
      A0A8V8TLN8
      Related
      ENSP00000364042.3, ENST00000374907.7
      Conserved Domains (4) summary
      smart00191
      Location:331385
      Int_alpha; Integrin alpha (beta-propellor repeats)
      sd00039
      Location:51120
      7WD40; WD40 repeat [structural motif]
      pfam08441
      Location:431878
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:185235
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
    3. NM_002210.5NP_002201.2  integrin alpha-V isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC017101
      Consensus CDS
      CCDS2292.1
      UniProtKB/Swiss-Prot
      A0AV67, B0LPF4, B7Z883, B7ZLX0, D3DPG8, E7EWZ6, P06756, Q53SK4, Q59EB7, Q6LD15
      UniProtKB/TrEMBL
      A5YM53, L7RXH0
      Related
      ENSP00000261023.3, ENST00000261023.8
      Conserved Domains (4) summary
      smart00191
      Location:367421
      Int_alpha; Integrin alpha (beta-propellor repeats)
      sd00039
      Location:51120
      7WD40; WD40 repeat [structural motif]
      pfam08441
      Location:467914
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:221271
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      186590056..186680901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444225.1XP_047300181.1  integrin alpha-V isoform X1

      Related
      ENST00000696917.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      187079132..187170024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341876.1XP_054197851.1  integrin alpha-V isoform X1