Description: Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 1, mRNA. 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]. Transcript (Including UTRs) Position: hg19 chr19:55,525,075-55,549,632 Size: 24,558 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr19:55,525,450-55,549,604 Size: 24,155 Coding Exon Count: 8
myocardial infarct; thrombosis, deep vein Ollikainen, E. et al. 2004, Platelet membrane collagen receptor glycoprotein VI polymorphism is associated with coronary thrombosis and fatal myocardial infarction in middle-aged men., Atherosclerosis. 2004 Sep;176(1):95-9.
[PubMed 15306180]
Our findings support previous results on the role of this GPVI polymorphism, or another linked polymorphism, as a possible predictor of the risk of coronary thrombosis.
Platelet Aggregation Andrew D Johnson et al. Nature genetics 2010, Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists., Nature genetics.
[PubMed 20526338]
venous thrombosis Bezemer, I.D. et al, JAMA. 2008;299(11):1306-14, Gene variants associated with deep vein thrombosis, JAMA.
[PubMed 18349091]
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 Q9HCN6-3
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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.