Gene: ITGAV

Basic information

Tag Content
Uniprot ID P06756; A0AV67; B0LPF4; B7Z883; B7ZLX0; D3DPG8; E7EWZ6; Q53SK4; Q59EB7; Q6LD15;
Entrez ID 3685
Genbank protein ID AAI44101.1; ABY87533.1; AAY24257.1; AAI26232.1; BAD93131.1; BAH13869.1; AAG03000.1; AAA36808.1; AAI36443.1; EAX10934.1; AAA61631.1;
Genbank nucleotide ID NM_001145000.2; NM_002210.4; NM_001144999.2;
Ensembl protein ID ENSP00000364042; ENSP00000261023; ENSP00000404291;
Ensembl nucleotide ID ENSG00000138448
Gene name Integrin alpha-V
Gene symbol ITGAV
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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 a receptor 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 act as a receptor for CD40LG (PubMed:31331973).
Sequence
MAFPPRRRLR LGPRGLPLLL SGLLLPLCRA FNLDVDSPAE YSGPEGSYFG FAVDFFVPSA 60
SSRMFLLVGA PKANTTQPGI VEGGQVLKCD WSSTRRCQPI EFDATGNRDY AKDDPLEFKS 120
HQWFGASVRS KQDKILACAP LYHWRTEMKQ EREPVGTCFL QDGTKTVEYA PCRSQDIDAD 180
GQGFCQGGFS IDFTKADRVL LGGPGSFYWQ GQLISDQVAE IVSKYDPNVY SIKYNNQLAT 240
RTAQAIFDDS YLGYSVAVGD FNGDGIDDFV SGVPRAARTL GMVYIYDGKN MSSLYNFTGE 300
QMAAYFGFSV AATDINGDDY ADVFIGAPLF MDRGSDGKLQ EVGQVSVSLQ RASGDFQTTK 360
LNGFEVFARF GSAIAPLGDL DQDGFNDIAI AAPYGGEDKK GIVYIFNGRS TGLNAVPSQI 420
LEGQWAARSM PPSFGYSMKG ATDIDKNGYP DLIVGAFGVD RAILYRARPV ITVNAGLEVY 480
PSILNQDNKT CSLPGTALKV SCFNVRFCLK ADGKGVLPRK LNFQVELLLD KLKQKGAIRR 540
ALFLYSRSPS HSKNMTISRG GLMQCEELIA YLRDESEFRD KLTPITIFME YRLDYRTAAD 600
TTGLQPILNQ FTPANISRQA HILLDCGEDN VCKPKLEVSV DSDQKKIYIG DDNPLTLIVK 660
AQNQGEGAYE AELIVSIPLQ ADFIGVVRNN EALARLSCAF KTENQTRQVV CDLGNPMKAG 720
TQLLAGLRFS VHQQSEMDTS VKFDLQIQSS NLFDKVSPVV SHKVDLAVLA AVEIRGVSSP 780
DHVFLPIPNW EHKENPETEE DVGPVVQHIY ELRNNGPSSF SKAMLHLQWP YKYNNNTLLY 840
ILHYDIDGPM NCTSDMEINP LRIKISSLQT TEKNDTVAGQ GERDHLITKR DLALSEGDIH 900
TLGCGVAQCL KIVCQVGRLD RGKSAILYVK SLLWTETFMN KENQNHSYSL KSSASFNVIE 960
FPYKNLPIED ITNSTLVTTN VTWGIQPAPM PVPVWVIILA VLAGLLLLAV LVFVMYRMGF 1020
FKRVRPPQEE QEREQLQPHE NGEGNSET 1048

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologITGAV281875A0A3Q1MXS2Bos taurusPredictionMore>>
1:1 orthologITGAVA0A452E162Capra hircusPredictionMore>>
1:1 orthologITGAV3685P06756Homo sapiensPredictionMore>>
1:1 orthologItgav16410P43406CPOMus musculusPublicationMore>>
1:1 orthologITGAVA0A2I3SM65Pan troglodytesPredictionMore>>
1:1 orthologITGAVF1RYJ4Sus scrofaPredictionMore>>
1:1 orthologITGAV100008956A0A5F9D0E2Oryctolagus cuniculusPredictionMore>>
1:1 orthologItgavA0A0G2JVZ6Rattus norvegicusPredictionMore>>
1:1 orthologitgavB8JLK8Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001618 virus receptor activityIEA
GO:0001968 fibronectin bindingIDA
GO:0002020 protease bindingIDA
GO:0005178 integrin bindingIPI
GO:0005245 voltage-gated calcium channel activityIDA
GO:0005515 protein bindingIPI
GO:0015026 coreceptor activityTAS
GO:0046872 metal ion bindingIEA
GO:0050431 transforming growth factor beta bindingISS
GO:0050840 extracellular matrix bindingIDA
GO:1990430 extracellular matrix protein bindingIDA
GO:0001846 opsonin bindingISS
GO:0005080 protein kinase C bindingISS
GO:0017134 fibroblast growth factor bindingIDA
GO:0019960 C-X3-C chemokine bindingIDA
GO:0031994 insulin-like growth factor I bindingIDA
GO:0038132 neuregulin bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0001525 angiogenesisIEP
GO:0001570 vasculogenesisIEA
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentTAS
GO:0007155 cell adhesionIDA
GO:0007160 cell-matrix adhesionNAS
GO:0007160 cell-matrix adhesionIMP
GO:0007204 positive regulation of cytosolic calcium ion concentrationIEA
GO:0007229 integrin-mediated signaling pathwayNAS
GO:0008284 positive regulation of cell population proliferationIDA
GO:0010745 negative regulation of macrophage derived foam cell differentiationIMP
GO:0010888 negative regulation of lipid storageIMP
GO:0030198 extracellular matrix organizationTAS
GO:0030335 positive regulation of cell migrationIEA
GO:0031589 cell-substrate adhesionIMP
GO:0032369 negative regulation of lipid transportIMP
GO:0033627 cell adhesion mediated by integrinIDA
GO:0033690 positive regulation of osteoblast proliferationIEA
GO:0034113 heterotypic cell-cell adhesionIMP
GO:0034446 substrate adhesion-dependent cell spreadingIDA
GO:0035987 endodermal cell differentiationIMP
GO:0038027 apolipoprotein A-I-mediated signaling pathwayIMP
GO:0038044 transforming growth factor-beta secretionIEA
GO:0043277 apoptotic cell clearanceISS
GO:0043277 apoptotic cell clearanceIGI
GO:0043312 neutrophil degranulationTAS
GO:0045715 negative regulation of low-density lipoprotein particle receptor biosynthetic processIMP
GO:0045785 positive regulation of cell adhesionIDA
GO:0046718 viral entry into host cellTAS
GO:0046718 viral entry into host cellIMP
GO:0048010 vascular endothelial growth factor receptor signaling pathwayTAS
GO:0050748 negative regulation of lipoprotein metabolic processIMP
GO:0050764 regulation of phagocytosisIDA
GO:0050900 leukocyte migrationTAS
GO:0050919 negative chemotaxisIMP
GO:0052066 entry of symbiont into host cell by promotion of host phagocytosisNAS
GO:0070371 ERK1 and ERK2 cascadeISS
GO:0070588 calcium ion transmembrane transportIDA
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligandISS
GO:1901388 regulation of transforming growth factor beta activationIDA
GO:2000536 negative regulation of entry of bacterium into host cellIDA
GO:2001237 negative regulation of extrinsic apoptotic signaling pathwayIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005623 cellIEA
GO:0005829 cytosolIDA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneNAS
GO:0005925 focal adhesionIDA
GO:0005925 focal adhesionHDA
GO:0008305 integrin complexNAS
GO:0008305 integrin complexIDA
GO:0009897 external side of plasma membraneIEA
GO:0009986 cell surfaceISS
GO:0009986 cell surfaceIDA
GO:0009986 cell surfaceHDA
GO:0016020 membraneISS
GO:0031258 lamellipodium membraneIDA
GO:0031527 filopodium membraneIDA
GO:0031528 microvillus membraneIDA
GO:0032587 ruffle membraneIDA
GO:0034683 integrin alphav-beta3 complexIDA
GO:0034684 integrin alphav-beta5 complexIDA
GO:0034685 integrin alphav-beta6 complexIDA
GO:0034686 integrin alphav-beta8 complexIDA
GO:0035579 specific granule membraneTAS
GO:0035866 alphav-beta3 integrin-PKCalpha complexNAS
GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complexIDA
GO:0035868 alphav-beta3 integrin-HMGB1 complexIDA
GO:0045335 phagocytic vesicleTAS
GO:0070062 extracellular exosomeHDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109582 HemostasisTAS
R-HSA-1236973 Cross-presentation of particulate exogenous antigens (phagosomes)TAS
R-HSA-1236975 Antigen processing-Cross presentationTAS
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280218 Adaptive Immune SystemTAS
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-1566948 Elastic fibre formationTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-168249 Innate Immune SystemTAS
R-HSA-168256 Immune SystemTAS
R-HSA-194138 Signaling by VEGFTAS
R-HSA-202733 Cell surface interactions at the vascular wallTAS
R-HSA-210990 PECAM1 interactionsTAS
R-HSA-2129379 Molecules associated with elastic fibresTAS
R-HSA-216083 Integrin cell surface interactionsTAS
R-HSA-216083 Integrin cell surface interactionsIEA
R-HSA-3000157 Laminin interactionsIEA
R-HSA-3000170 Syndecan interactionsTAS
R-HSA-3000170 Syndecan interactionsIEA
R-HSA-3000171 Non-integrin membrane-ECM interactionsTAS
R-HSA-3000171 Non-integrin membrane-ECM interactionsIEA
R-HSA-3000178 ECM proteoglycansTAS
R-HSA-373760 L1CAM interactionsTAS
R-HSA-422475 Axon guidanceTAS
R-HSA-4420097 VEGFA-VEGFR2 PathwayTAS
R-HSA-445144 Signal transduction by L1TAS
R-HSA-6798695 Neutrophil degranulationTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-983169 Class I MHC mediated antigen processing & presentationTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0106 Calcium
KW-0130 Cell adhesion
KW-0965 Cell junction
KW-1003 Cell membrane
KW-0165 Cleavage on pair of basic residues
KW-0903 Direct protein sequencing
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-1183 Host cell receptor for virus entry
KW-0945 Host-virus interaction
KW-0401 Integrin
KW-0472 Membrane
KW-0479 Metal-binding
KW-0621 Polymorphism
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR013517 FG-GAP
IPR013519 Int_alpha_beta-p
IPR000413 Integrin_alpha
IPR013649 Integrin_alpha-2
IPR018184 Integrin_alpha_C_CS
IPR028994 Integrin_alpha_N
IPR032695 Integrin_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS51470 FG_GAP
PS00242 INTEGRIN_ALPHA

Pfam

Pfam ID Pfam Term
PF01839 FG-GAP
PF00357 Integrin_alpha
PF08441 Integrin_alpha2

Protein-protein interaction

Protein-miRNA interaction