ITGA8

Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms.

Full Name

integrin alpha 8

Function

Integrin 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.

Biological Process

Brain developmentIEA:Ensembl
Cell projection organizationIEA:Ensembl
Cell-cell adhesion1 PublicationNAS:UniProtKB
Cell-matrix adhesionManual Assertion Based On ExperimentIMP:UniProtKB
Establishment of protein localizationIEA:Ensembl
Extracellular matrix organizationIEA:Ensembl
Inner ear morphogenesisIEA:Ensembl
Integrin-mediated signaling pathwayIEA:UniProtKB-KW
Kidney developmentManual Assertion Based On ExperimentIMP:UniProtKB
MemoryIEA:Ensembl
Mesodermal cell differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Metanephros developmentIEA:Ensembl
Positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiationIEA:Ensembl
Positive regulation of transforming growth factor beta receptor signaling pathwayIEA:Ensembl
Smooth muscle tissue developmentIEA:Ensembl
Substrate adhesion-dependent cell spreadingManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Membrane; Cell membrane

Involvement in disease

Renal hypodysplasia/aplasia 1 (RHDA1):
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.

Topology

Extracellular: 39-1012
Helical: 1013-1033
Cytoplasmic: 1034-1063