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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A decrease in integrin alpha5beta1/FAK is associated with increased apoptosis of aortic smooth muscle cells in acute type a aortic dissection.
Title: A decrease in integrin α5β1/FAK is associated with increased apoptosis of aortic smooth muscle cells in acute type a aortic dissection.
Novel prognostic marker TGFBI affects the migration and invasion function of ovarian cancer cells and activates the integrin alphavbeta3-PI3K-Akt signaling pathway.
Title: Novel prognostic marker TGFBI affects the migration and invasion function of ovarian cancer cells and activates the integrin αvβ3-PI3K-Akt signaling pathway.
Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha promotes invasion and metastasis of cholangiocarcinoma cells.
Title: Matrix metalloproteinase-2 inducing COL1A1 synthesis via integrin alpha Ⅴ promotes invasion and metastasis of cholangiocarcinoma cells.
Integrin alphavbeta1 facilitates ACE2-mediated entry of SARS-CoV-2.
Title: Integrin αvβ1 facilitates ACE2-mediated entry of SARS-CoV-2.
Integrin-alphavbeta3 is a Therapeutically Targetable Fundamental Factor in Medulloblastoma Tumorigenicity and Radioresistance.
Title: Integrin-αvβ3 is a Therapeutically Targetable Fundamental Factor in Medulloblastoma Tumorigenicity and Radioresistance.
Combined inhibition of surface CD51 and gamma-secretase-mediated CD51 cleavage improves therapeutic efficacy in experimental metastatic hepatocellular carcinoma.
Title: Combined inhibition of surface CD51 and γ-secretase-mediated CD51 cleavage improves therapeutic efficacy in experimental metastatic hepatocellular carcinoma.
Interaction of Integrin alphavbeta8 With Type I Collagen Promotes Squamous Cell Carcinoma Cell Motility via RAC1 Activation.
Title: Interaction of Integrin αvβ8 With Type I Collagen Promotes Squamous Cell Carcinoma Cell Motility via RAC1 Activation.
Regulation of the integrin alphaVbeta3- actin filaments axis in early osteogenic differentiation of human mesenchymal stem cells under cyclic tensile stress.
Title: Regulation of the integrin αVβ3- actin filaments axis in early osteogenic differentiation of human mesenchymal stem cells under cyclic tensile stress.
Molecular basis for the recognition of 24-(S)-hydroxycholesterol by integrin alphavbeta3.
Title: Molecular basis for the recognition of 24-(S)-hydroxycholesterol by integrin αvβ3.
Dysregulation of integrin alphavbeta3 and alpha5beta1 impedes migration of placental endothelial cells in fetal growth restriction.
Title: Dysregulation of integrin αvβ3 and α5β1 impedes migration of placental endothelial cells in fetal growth restriction.

Submit: New GeneRIF Correction See all GeneRIFs (480)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83383 (e-PCR)
- UniSTS:101892

D2S2597 (e-PCR)
- UniSTS:55047

A006R29 (e-PCR)
- UniSTS:56840

RH17666 (e-PCR)
- UniSTS:29484

G10667 (e-PCR)
- UniSTS:17732

D2S1746 (e-PCR)
- UniSTS:65718

D2S2967 (e-PCR)
- UniSTS:50878

ITGAV_2290 (e-PCR)
- UniSTS:280790

MARC_11551-11552:1002130198:2 (e-PCR)
- UniSTS:267227

A008S43 (e-PCR)
- UniSTS:10204

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 more info	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 more info	PubMed
located_in filopodium membrane	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	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

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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)

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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)

NM_001144999.3 → NP_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:321 → 375

Int_alpha; Integrin alpha (beta-propellor repeats)

sd00039
Location:80 → 137

7WD40; WD40 repeat [structural motif]

pfam08441
Location:421 → 868

Integrin_alpha2; Integrin alpha

pfam13517
Location:175 → 225

VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
NM_001145000.3 → NP_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:331 → 385

Int_alpha; Integrin alpha (beta-propellor repeats)

sd00039
Location:51 → 120

7WD40; WD40 repeat [structural motif]

pfam08441
Location:431 → 878

Integrin_alpha2; Integrin alpha

pfam13517
Location:185 → 235

VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
NM_002210.5 → NP_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:367 → 421

Int_alpha; Integrin alpha (beta-propellor repeats)

sd00039
Location:51 → 120

7WD40; WD40 repeat [structural motif]

pfam08441
Location:467 → 914

Integrin_alpha2; Integrin alpha

pfam13517
Location:221 → 271

VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella