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Glycoprotein IX (platelet)
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| Identifiers | ||
| Symbol(s) | GP9; CD42a; GPIX | |
| External IDs | OMIM: 173515 MGI: 1860137 HomoloGene: 144 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 2815 | 54368 |
| Ensembl | ENSG00000169704 | ENSMUSG00000030054 |
| Uniprot | P14770 | n/a |
| Refseq | NM_000174 (mRNA) NP_000165 (protein) |
NM_018762 (mRNA) NP_061232 (protein) |
| Location | Chr 3: 130.26 - 130.26 Mb | Chr 6: 87.74 - 87.75 Mb |
| Pubmed search | [1] | [2] |
Glycoprotein IX (platelet) (GP9) also known as CD42a (Cluster of Differentiation 42a), is a human gene. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
Platelet glycoprotein IX (GP9) is a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib (GP Ib), a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor (VWF; MIM 193400). The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with GP9 and platelet glycoprotein V (GP5; MIM 173511). [supplied by OMIM][1]
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See also
References
- ^ a b Entrez Gene: GP9 glycoprotein IX (platelet). The cluster of differentiation (often abbreviated as CD) is a protocol used for the identification and investigation of Cell surface molecules present on Leukocytes
Further reading
- Kunishima S, Kamiya T, Saito H (2003). "Genetic abnormalities of Bernard-Soulier syndrome. ". Int. J. Hematol. 76 (4): 319-27. PMID 12463594.
- Hickey MJ, Deaven LL, Roth GJ (1991). "Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3. ". FEBS Lett. 274 (1-2): 189-92. PMID 2253772.
- Du X, Beutler L, Ruan C, et al. (1987). "Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membrane. ". Blood 69 (5): 1524-7. PMID 2436691.
- Andrews RK, Booth WJ, Gorman JJ, et al. (1990). "Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex. ". Biochemistry 28 (21): 8317-26. PMID 2557900.
- Hickey MJ, Williams SA, Roth GJ (1989). "Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures. ". Proc. Natl. Acad. Sci. U. S. A. 86 (17): 6773-7. PMID 2771955.
- Roth GJ, Ozols J, Nugent DJ, Williams SA (1988). "Isolation and characterization of human platelet glycoprotein IX. ". Biochem. Biophys. Res. Commun. 156 (2): 931-9. PMID 3056407.
- Meyer SC, Fox JE (1995). "Interaction of platelet glycoprotein V with glycoprotein Ib-IX regulates expression of the glycoproteins and binding of von Willebrand factor to glycoprotein Ib-IX in transfected cells. ". J. Biol. Chem. 270 (24): 14693-9. PMID 7782333.
- Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ (1994). "Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. ". Blood 84 (4): 1124-31. PMID 8049428.
- Hickey MJ, Roth GJ (1993). "Characterization of the gene encoding human platelet glycoprotein IX. ". J. Biol. Chem. 268 (5): 3438-43. PMID 8429020.
- Wright SD, Michaelides K, Johnson DJ, et al. (1993). "Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. ". Blood 81 (9): 2339-47. PMID 8481514.
- Berger G, Massé JM, Cramer EM (1996). "Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. ". Blood 87 (4): 1385-95. PMID 8608228.
- Hollmann C, Haag F, Schlott M, et al. (1996). "Molecular characterization of mouse T-cell ecto-ADP-ribosyltransferase Rt6: cloning of a second functional gene and identification of the Rt6 gene products. ". Mol. Immunol. 33 (9): 807-17. PMID 8811076.
- Noris P, Simsek S, Stibbe J, von dem Borne AE (1997). "A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. ". Br. J. Haematol. 97 (2): 312-20. PMID 9163595.
- Hayashi T, Suzuki K, Yahagi A, et al. (1997). "Corrected DNA sequence of the platelet glycoprotein IX gene. ". Thromb. Haemost. 77 (5): 1034-5. PMID 9184424.
- Bradford HN, Dela Cadena RA, Kunapuli SP, et al. (1997). "Human kininogens regulate thrombin binding to platelets through the glycoprotein Ib-IX-V complex. ". Blood 90 (4): 1508-15. PMID 9269768.
- Suzuki K, Hayashi T, Yahagi A, et al. (1998). "Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. ". Br. J. Haematol. 99 (4): 794-800. PMID 9432024.
- Noris P, Arbustini E, Spedini P, et al. (1999). "A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. ". Br. J. Haematol. 103 (4): 1004-13. PMID 9886312.
- Longhurst CM, White MM, Wilkinson DA, Jennings LK (1999). "A CD9, alphaIIbbeta3, integrin-associated protein, and GPIb/V/IX complex on the surface of human platelets is influenced by alphaIIbbeta3 conformational states. ". Eur. J. Biochem. 263 (1): 104-11. PMID 10429193.
- Kunishima S, Tomiyama Y, Honda S, et al. (2000). "Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. ". Br. J. Haematol. 107 (3): 539-45. PMID 10583255.
- Rivera CE, Villagra J, Riordan M, et al. (2001). "Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. ". Br. J. Haematol. 112 (1): 105-8. PMID 11167791.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain. Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books The United States National Library of Medicine ( NLM) operated by the United States federal government, is the world's largest Medical library. The public domain is a range of abstract materials &ndash commonly referred to as Intellectual property &ndash which are not owned or controlled by anyone