Human Gene ITGA8 (ENST00000378076.4) from GENCODE V44
Description: Homo sapiens integrin subunit alpha 8 (ITGA8), transcript variant 1, mRNA. (from RefSeq NM_003638) RefSeq Summary (NM_003638): 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. [provided by RefSeq, Apr 2014]. Gencode Transcript: ENST00000378076.4 Gencode Gene: ENSG00000077943.8 Transcript (Including UTRs) Position: hg38 chr10:15,513,954-15,719,922 Size: 205,969 Total Exon Count: 30 Strand: - Coding Region Position: hg38 chr10:15,517,158-15,719,771 Size: 202,614 Coding Exon Count: 30
ID:ITA8_HUMAN DESCRIPTION: RecName: Full=Integrin alpha-8; Contains: RecName: Full=Integrin alpha-8 heavy chain; Contains: RecName: Full=Integrin alpha-8 light chain; Flags: Precursor; 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. SUBUNIT: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an heavy and a light chain linked by a disulfide bond. Alpha-8 associates with beta-1. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed in mesenchymal cells, including alveolar myofibroblasts, kidney mesangial cells and hepatic stellar cells and vascular and visceral smooth muscle (at protein level). SIMILARITY: Belongs to the integrin alpha chain family. SIMILARITY: Contains 7 FG-GAP repeats. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/itga8/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P53708
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.