Human Gene GP6 (ENST00000310373.7) from GENCODE V44
Description: Homo sapiens glycoprotein VI platelet (GP6), transcript variant 1, mRNA. (from RefSeq NM_001083899) RefSeq Summary (NM_001083899): This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. Gencode Transcript: ENST00000310373.7 Gencode Gene: ENSG00000088053.11 Transcript (Including UTRs) Position: hg38 chr19:55,013,705-55,038,264 Size: 24,560 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr19:55,014,082-55,038,236 Size: 24,155 Coding Exon Count: 8
ID:GPVI_HUMAN DESCRIPTION: RecName: Full=Platelet glycoprotein VI; Short=GPVI; AltName: Full=Glycoprotein 6; Flags: Precursor; FUNCTION: Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma- chain, the Src kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2. SUBUNIT: Associated with Fc receptor gamma chain. The GPVI- FcRgamma complex is associated with the Src kinase family Fyn and Lyn. INTERACTION: P07948:LYN; NbExp=2; IntAct=EBI-515278, EBI-79452; SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass membrane protein. SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass membrane protein. TISSUE SPECIFICITY: Megakaryocytes and platelets. PTM: N-linked glycosylation at Asn-92 is not required for the cell surface expression, but contributes to maximal adhesion to type I collagen, collagen-related peptide (CRP), and, to a lesser extent, to the snake venom C-type lectin convulxin (CVX). DISEASE: Defects in GP6 are the cause of bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201]. BDPLT11 is a mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen. SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
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 Q9HCN6
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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.