| Tag | Content |
|---|---|
| Uniprot ID | P43406; A2AKI6; |
| Entrez ID | 16410 |
| Genbank protein ID | AAC52497.1 |
| Genbank nucleotide ID | NM_008402.3 |
| Ensembl protein ID | ENSMUSP00000028499 |
| Ensembl nucleotide ID | ENSMUSG00000027087 |
| Gene name | Integrin alpha-V |
| Gene symbol | Itgav |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25670798; 9827803; |
| Functional description | The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, TGFB1 and vWF (PubMed:9827803, PubMed:10025398). They recognize the sequence R-G-D in a wide array of ligands. Alpha-V integrins may play a role in embryo implantation, angiogenesis and wound healing (PubMed:9827803). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (By similarity). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (By similarity). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (By similarity). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (By similarity). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (By similarity). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (By similarity). 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 (By similarity). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (By similarity). 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:10025398, PubMed:25127859). ITGAV:ITGB3 act as a receptor for CD40LG (By similarity). |
| Sequence | MAAPGRLLLR PRPGGLLLLL PGLLLPLADA FNLDVESPAE YAGPEGSYFG FAVDFFEPST 60 SSRMFLLVGA PKANTTQPGI VEGGQVLKCE CSSSRRCQPI EFDSTGNRDY AKDDPLEFKS 120 HQWFGASVRS KQDKILACAP LYHWRTEMKQ EREPVGTCFL QDGTKTVEYA PCRSKNIDAD 180 GQGFCQGGFS IDFTKADRVL LGGPGSFYWQ GQLISDQVAE IISKYDPNVY SIKYNNQLAT 240 RTAQAIFDDS YLGYSVAVGD FNGDGIEDFV SGVPRAARTL GMVYIYDGKN MSSLHNFTGE 300 QMAAYFGFSV AATDINGDDY ADVFIGAPLF MDRGSDGKLQ EVGQVSVSLQ RAVGDFQTTK 360 LNGFEVFARF GSAIAPLGDL DQDGFNDIAI AAPYGGEDKK GLVYIFNGRS TGLNSVPSQI 420 LEGQWAAQSM PPSFGYSMKG ATDVDRNGYP DLVVGAFGVD RAVLYRARPV VTVNAGLEVY 480 PSILNQDNKI CPLPGTALKV SCFNVRFCLK ADGKGTLPRK LHFQVELLLD KLKQKGAIRR 540 ALFLHNRSPV HSKTMTVFRG GQMQCEELVA YLRDESEFRD KLTPITIFME YRLDQRTAAD 600 ATGLQPILNQ FTPANVSRQA HILLDCGEDN VCKPKLEVSV NSDQKKIYIG DDNPLTLTVK 660 AQNQGEGAYE AELIVSIPPQ ADFIGVVRNN EALARLSCAF KTENQTRQVV CDLGNPMKAG 720 TQLLAGLRFS VHQQSEMDTS VKFDLKIQSS NSFDNVSPVV SYKVDLAVLA AVEIRGVSSP 780 DHIFLPIPNW EYKENPETEE DVGPIVQHIY ELRNNGPSSF SKAILNLQWP YKYNNNTLLY 840 ILHYDIDGPM NCTADTEINP LRIKTPEKND TAAAGQGERN HLITKRDLTL REGDVHTLGC 900 GIAKCLQITC QVGRLDRGKS AILYVKSLLW TETFMNKENQ NHSYSLKSSA SFNIIEFPYK 960 NLPIEDLFNS TLVTTNITWG IQPAPMPVPV WVIILAVLAG LLLLAVLVFV MYRMGFFKRV 1020 RPPQEEQERE QLQPHENGEG NSET 1044 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | ITGAV | 281875 | A0A3Q1MXS2 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | ITGAV | A0A452E162 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | ITGAV | 3685 | P06756 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Itgav | 16410 | P43406 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | ITGAV | A0A2I3SM65 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | ITGAV | F1RYJ4 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | ITGAV | 100008956 | A0A5F9D0E2 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Itgav | A0A0G2JVZ6 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | itgav | B8JLK8 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001968 | fibronectin binding | ISO |
| GO:0002020 | protease binding | ISO |
| GO:0005102 | signaling receptor binding | ISO |
| GO:0005178 | integrin binding | ISO |
| GO:0005178 | integrin binding | IPI |
| GO:0005245 | voltage-gated calcium channel activity | ISO |
| GO:0046872 | metal ion binding | IEA |
| GO:0050431 | transforming growth factor beta binding | ISS |
| GO:0050840 | extracellular matrix binding | ISO |
| GO:1990430 | extracellular matrix protein binding | ISO |
| GO:0001846 | opsonin binding | IDA |
| GO:0005080 | protein kinase C binding | IDA |
| GO:0017134 | fibroblast growth factor binding | ISO |
| GO:0019960 | C-X3-C chemokine binding | ISS |
| GO:0019960 | C-X3-C chemokine binding | ISO |
| GO:0031994 | insulin-like growth factor I binding | ISS |
| GO:0031994 | insulin-like growth factor I binding | ISO |
| GO:0038132 | neuregulin binding | ISS |
| GO:0038132 | neuregulin binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001525 | angiogenesis | IEA |
| GO:0001568 | blood vessel development | IMP |
| GO:0001570 | vasculogenesis | IEA |
| GO:0006954 | inflammatory response | TAS |
| GO:0007155 | cell adhesion | ISS |
| GO:0007155 | cell adhesion | ISO |
| GO:0007160 | cell-matrix adhesion | ISO |
| GO:0007160 | cell-matrix adhesion | TAS |
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | ISO |
| GO:0007229 | integrin-mediated signaling pathway | IEA |
| GO:0008284 | positive regulation of cell population proliferation | ISS |
| GO:0008284 | positive regulation of cell population proliferation | ISO |
| GO:0009566 | fertilization | NAS |
| GO:0010745 | negative regulation of macrophage derived foam cell differentiation | ISS |
| GO:0010745 | negative regulation of macrophage derived foam cell differentiation | ISO |
| GO:0010888 | negative regulation of lipid storage | ISS |
| GO:0010888 | negative regulation of lipid storage | ISO |
| GO:0016477 | cell migration | ISO |
| GO:0030335 | positive regulation of cell migration | IMP |
| GO:0031589 | cell-substrate adhesion | ISO |
| GO:0032369 | negative regulation of lipid transport | ISS |
| GO:0032369 | negative regulation of lipid transport | ISO |
| GO:0032490 | detection of molecule of bacterial origin | TAS |
| GO:0033627 | cell adhesion mediated by integrin | ISS |
| GO:0033627 | cell adhesion mediated by integrin | ISO |
| GO:0033627 | cell adhesion mediated by integrin | IDA |
| GO:0033690 | positive regulation of osteoblast proliferation | IMP |
| GO:0034113 | heterotypic cell-cell adhesion | ISO |
| GO:0034446 | substrate adhesion-dependent cell spreading | ISO |
| GO:0035262 | gonad morphogenesis | NAS |
| GO:0035987 | endodermal cell differentiation | ISO |
| GO:0038027 | apolipoprotein A-I-mediated signaling pathway | ISO |
| GO:0038044 | transforming growth factor-beta secretion | IDA |
| GO:0042110 | T cell activation | TAS |
| GO:0043277 | apoptotic cell clearance | ISO |
| GO:0043277 | apoptotic cell clearance | IMP |
| GO:0043277 | apoptotic cell clearance | IDA |
| GO:0043277 | apoptotic cell clearance | IGI |
| GO:0043542 | endothelial cell migration | TAS |
| GO:0045124 | regulation of bone resorption | TAS |
| GO:0045715 | negative regulation of low-density lipoprotein particle receptor biosynthetic process | ISS |
| GO:0045715 | negative regulation of low-density lipoprotein particle receptor biosynthetic process | ISO |
| GO:0045785 | positive regulation of cell adhesion | ISS |
| GO:0045785 | positive regulation of cell adhesion | ISO |
| GO:0046718 | viral entry into host cell | ISO |
| GO:0048041 | focal adhesion assembly | NAS |
| GO:0050748 | negative regulation of lipoprotein metabolic process | ISS |
| GO:0050748 | negative regulation of lipoprotein metabolic process | ISO |
| GO:0050764 | regulation of phagocytosis | ISS |
| GO:0050764 | regulation of phagocytosis | ISO |
| GO:0050764 | regulation of phagocytosis | NAS |
| GO:0050919 | negative chemotaxis | ISO |
| GO:0051209 | release of sequestered calcium ion into cytosol | TAS |
| GO:0060707 | trophoblast giant cell differentiation | TAS |
| GO:0070371 | ERK1 and ERK2 cascade | IDA |
| GO:0070588 | calcium ion transmembrane transport | ISO |
| GO:0071731 | response to nitric oxide | TAS |
| GO:0097192 | extrinsic apoptotic signaling pathway in absence of ligand | IDA |
| GO:1901388 | regulation of transforming growth factor beta activation | ISS |
| GO:1901388 | regulation of transforming growth factor beta activation | ISO |
| GO:2000536 | negative regulation of entry of bacterium into host cell | ISS |
| GO:2000536 | negative regulation of entry of bacterium into host cell | ISO |
| GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005623 | cell | IEA |
| GO:0005829 | cytosol | ISO |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IDA |
| GO:0005886 | plasma membrane | TAS |
| GO:0005925 | focal adhesion | ISS |
| GO:0005925 | focal adhesion | ISO |
| GO:0008305 | integrin complex | ISS |
| GO:0008305 | integrin complex | ISO |
| GO:0009897 | external side of plasma membrane | IDA |
| GO:0009986 | cell surface | ISS |
| GO:0009986 | cell surface | ISO |
| GO:0016020 | membrane | IDA |
| GO:0031258 | lamellipodium membrane | ISO |
| GO:0031527 | filopodium membrane | ISO |
| GO:0031528 | microvillus membrane | ISO |
| GO:0032587 | ruffle membrane | ISO |
| GO:0034683 | integrin alphav-beta3 complex | ISO |
| GO:0034683 | integrin alphav-beta3 complex | TAS |
| GO:0034684 | integrin alphav-beta5 complex | ISO |
| GO:0034684 | integrin alphav-beta5 complex | IDA |
| GO:0034685 | integrin alphav-beta6 complex | ISO |
| GO:0034685 | integrin alphav-beta6 complex | IDA |
| GO:0034686 | integrin alphav-beta8 complex | ISS |
| GO:0034686 | integrin alphav-beta8 complex | ISO |
| GO:0035867 | alphav-beta3 integrin-IGF-1-IGF1R complex | ISO |
| GO:0035868 | alphav-beta3 integrin-HMGB1 complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-109582 | Hemostasis | IEA |
| R-MMU-1236973 | Cross-presentation of particulate exogenous antigens (phagosomes) | IEA |
| R-MMU-1236975 | Antigen processing-Cross presentation | IEA |
| R-MMU-1266738 | Developmental Biology | IEA |
| R-MMU-1280218 | Adaptive Immune System | IEA |
| R-MMU-1474244 | Extracellular matrix organization | IEA |
| R-MMU-1566948 | Elastic fibre formation | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-168249 | Innate Immune System | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-194138 | Signaling by VEGF | IEA |
| R-MMU-202733 | Cell surface interactions at the vascular wall | IEA |
| R-MMU-210990 | PECAM1 interactions | IEA |
| R-MMU-2129379 | Molecules associated with elastic fibres | IEA |
| R-MMU-216083 | Integrin cell surface interactions | IEA |
| R-MMU-3000170 | Syndecan interactions | IEA |
| R-MMU-3000171 | Non-integrin membrane-ECM interactions | IEA |
| R-MMU-3000178 | ECM proteoglycans | IEA |
| R-MMU-373760 | L1CAM interactions | IEA |
| R-MMU-422475 | Axon guidance | IEA |
| R-MMU-4420097 | VEGFA-VEGFR2 Pathway | IEA |
| R-MMU-445144 | Signal transduction by L1 | IEA |
| R-MMU-6798695 | Neutrophil degranulation | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| R-MMU-983169 | Class I MHC mediated antigen processing & presentation | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0037 | Angiogenesis |
| KW-0106 | Calcium |
| KW-0130 | Cell adhesion |
| KW-0965 | Cell junction |
| KW-1003 | Cell membrane |
| KW-0165 | Cleavage on pair of basic residues |
| KW-0217 | Developmental protein |
| KW-0221 | Differentiation |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0401 | Integrin |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0732 | Signal |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |