Description: Homo sapiens glycoprotein IX (platelet) (GP9), mRNA. RefSeq Summary (NM_000174): This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]. Transcript (Including UTRs) Position: hg19 chr3:128,779,645-128,781,253 Size: 1,609 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr3:128,780,583-128,781,116 Size: 534 Coding Exon Count: 1
ID:GPIX_HUMAN DESCRIPTION: RecName: Full=Platelet glycoprotein IX; Short=GP-IX; Short=GPIX; AltName: Full=Glycoprotein 9; AltName: CD_antigen=CD42a; Flags: Precursor; FUNCTION: The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib. SUBUNIT: Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DISEASE: Defects in GP9 are a cause of Bernard-Soulier syndrome (BSS) [MIM:231200]; also known as giant platelet disease (GPD). BSS patients have unusually large platelets and have a clinical bleeding tendency. MISCELLANEOUS: Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin- binding protein. SIMILARITY: Contains 1 LRR (leucine-rich) repeat. SIMILARITY: Contains 1 LRRCT domain. SIMILARITY: Contains 1 LRRNT domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GP9";
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GP9 CDC HuGE Published Literature: GP9 Positive Disease Associations: Bernard-Soulier Syndrome Related Studies:
Bernard-Soulier Syndrome Noris P et al. 1997, A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome., British journal of haematology. 1997 May;97(2):312-20.
[PubMed 9163595]
Bernard-Soulier Syndrome Suzuki K et al. 1997, Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome., British journal of haematology. 1997 Dec;99(4):794-800.
[PubMed 9432024]
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.
SCOP Domains: 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1
ModBase Predicted Comparative 3D Structure on P14770
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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.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
