ITGAV
entrez
3685
canonical
uniprot
P06756
canonical
ensembl
ENSG00000138448
resolver
ensp
ENSP00000261023
resolver
ensp
ENSP00000364042
resolver
ensp
ENSP00000404291
resolver
genesymbol
ITGAV
resolver
genesymbol_syn
MSK8
resolver
genesymbol_syn
VNRA
resolver
genesymbol_syn
VTNR
resolver
hgnc
HGNC:6150
resolver
uniprot
A0AV67
resolver
uniprot
B0LPF4
resolver
uniprot
B7Z883
resolver
uniprot
B7ZLX0
resolver
uniprot
D3DPG8
resolver
uniprot
E7EWZ6
resolver
uniprot
Q53SK4
resolver
uniprot
Q59EB7
resolver
uniprot
Q6LD15
resolver
uniprot_entry
ITAV_HUMAN
resolver
uniprot_sec
A0AV67
resolver
uniprot_sec
B0LPF4
resolver
uniprot_sec
B7Z883
resolver
uniprot_sec
B7ZLX0
resolver
uniprot_sec
D3DPG8
resolver
uniprot_sec
E7EWZ6
resolver
uniprot_sec
Q53SK4
resolver
uniprot_sec
Q59EB7
resolver
uniprot_sec
Q6LD15
resolver
amino_acid_sequence
MAFPPRRRLRLGPRGLPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTKADRVLLGGPGSFYWQGQLISDQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILNQDNKTCSLPGTALKVSCFNVRFCLKADGKGVLPRKLNFQVELLLDKLKQKGAIRRALFLYSRSPSHSKNMTISRGGLMQCEELIAYLRDESEFRDKLTPITIFMEYRLDYRTAADTTGLQPILNQFTPANISRQAHILLDCGEDNVCKPKLEVSVDSDQKKIYIGDDNPLTLIVKAQNQGEGAYEAELIVSIPLQADFIGVVRNNEALARLSCAFKTENQTRQVVCDLGNPMKAGTQLLAGLRFSVHQQSEMDTSVKFDLQIQSSNLFDKVSPVVSHKVDLAVLAAVEIRGVSSPDHVFLPIPNWEHKENPETEEDVGPVVQHIYELRNNGPSSFSKAMLHLQWPYKYNNNTLLYILHYDIDGPMNCTSDMEINPLRIKISSLQTTEKNDTVAGQGERDHLITKRDLALSEGDIHTLGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTTNVTWGIQPAPMPVPVWVIILAVLAGLLLLAVLVFVMYRMGFFKRVRPPQEEQEREQLQPHENGEGNSET
uniprot
proteins
disease_involvement
DISEASE: Immune dysregulation, neurodevelopmental defects, and colitis (IDNDC) [MIM:621375]: An autosomal recessive disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and developmental delay with cognitive dysfunction. {ECO:0000269|PubMed:39526957}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as receptors for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 acts as a receptor for CD40LG (PubMed:31331973). ITGAV:ITGB3 acts as a receptor for IBSP and promotes cell adhesion and migration to IBSP (PubMed:10640428). ITGAV:ITGB3 acts as a receptor for SNED1 and mediates R-G-D-dependent cell adhesion to SNED1 (PubMed:39713860). {ECO:0000269|PubMed:10640428, ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15184403, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18441324, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:28117447, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973, ECO:0000269|PubMed:39713860}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C. {ECO:0000269|PubMed:20615244}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1. {ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:7519807, ECO:0000269|PubMed:9426447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1. {ECO:0000269|PubMed:24367260}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1. {ECO:0000269|PubMed:11160695}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus. {ECO:0000269|PubMed:23658209}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}.
uniprot
proteins
mass_dalton
116038
uniprot
proteins
mutagenesis
MUTAGEN 1020..1021; /note="FF->AA: Increases ligand-binding activity."; /evidence="ECO:0000269|PubMed:19704023
uniprot
proteins
protein_family
Integrin alpha chain family
uniprot
proteins
pubmed
10397733
uniprot
proteins
pubmed
10640428
uniprot
proteins
pubmed
10965141
uniprot
proteins
pubmed
11160695
uniprot
proteins
pubmed
11546839
uniprot
proteins
pubmed
12695522
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
12807887
uniprot
proteins
pubmed
14596610
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15184403
uniprot
proteins
pubmed
15194773
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16982628
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17158881
uniprot
proteins
pubmed
17925226
uniprot
proteins
pubmed
18045938
uniprot
proteins
pubmed
18441324
uniprot
proteins
pubmed
18635536
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19141530
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
19578119
uniprot
proteins
pubmed
19704023
uniprot
proteins
pubmed
20615244
uniprot
proteins
pubmed
20682778
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22278742
uniprot
proteins
pubmed
23125415
uniprot
proteins
pubmed
23658209
uniprot
proteins
pubmed
24011356
uniprot
proteins
pubmed
2430295
uniprot
proteins
pubmed
24367260
uniprot
proteins
pubmed
2443500
uniprot
proteins
pubmed
2467745
uniprot
proteins
pubmed
24942591
uniprot
proteins
pubmed
25398877
uniprot
proteins
pubmed
27993971
uniprot
proteins
pubmed
28117447
uniprot
proteins
pubmed
28302677
uniprot
proteins
pubmed
28873464
uniprot
proteins
pubmed
29030430
uniprot
proteins
pubmed
31331973
uniprot
proteins
pubmed
37184585
uniprot
proteins
pubmed
38016540
uniprot
proteins
pubmed
39197621
uniprot
proteins
pubmed
39526957
uniprot
proteins
pubmed
39713860
uniprot
proteins
pubmed
7519807
uniprot
proteins
pubmed
7522056
uniprot
proteins
pubmed
9426447
uniprot
proteins
sequence_length
1048
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, focal adhesion {ECO:0000269|PubMed:17158881}.
uniprot
proteins
transmembrane_region
TRANSMEM 993..1016; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins