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MGP003578

UniProt Annotations

Entry Information
Gene Nameintegrin, alpha 8
Protein EntryITA8_HUMAN
UniProt IDP53708
SpeciesHuman
Comments
Comment typeDescription
DiseaseRenal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830]: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. {ECO:0000269|PubMed:24439109}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIntegrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons. {ECO:0000269|PubMed:12415008, ECO:0000269|PubMed:15721307}.
SimilarityBelongs to the integrin alpha chain family. {ECO:0000305}.
SimilarityContains 7 FG-GAP repeats. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000269|PubMed:24439109}; Single-pass type I membrane protein {ECO:0000269|PubMed:24439109}. Cell membrane {ECO:0000269|PubMed:24439109}.
SubunitHeterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-8 associates with beta-1.
Tissue SpecificityExpressed in mesenchymal cells, including alveolar myofibroblasts, kidney mesangial cells and hepatic stellar cells and vascular and visceral smooth muscle (at protein level). {ECO:0000269|PubMed:10504498, ECO:0000269|PubMed:7768999}.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/itga8/";
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