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GP1BB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3REZ, 3RFE
Identifiers
Aliases	GP1BB, BDPLT1, BS, CD42C, GPIBB, GPIbbeta, glycoprotein Ib platelet beta subunit, glycoprotein Ib platelet subunit beta
External IDs	OMIM: 138720; MGI: 107852; HomoloGene: 30972; GeneCards: GP1BB; OMA:GP1BB - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q11.21 Start 19,723,539 bp End 19,724,771 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 A3|16 11.53 cM Start 18,439,067 bp End 18,441,153 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte blood primary visual cortex gonad olfactory zone of nasal mucosa bone marrow cells spleen superior frontal gyrus sural nerve Top expressed in ileum spleen jejunum bone marrow ganglionic eminence neural tube Mesencephalon striatum of neuraxis vasculature embryo More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding transmembrane signaling receptor activity identical protein binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process platelet activation blood coagulation, intrinsic pathway hemostasis cell surface receptor signaling pathway cell adhesion blood coagulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2812 14724 Ensembl ENSG00000203618 ENSMUSG00000050761 UniProt P13224 P56400 RefSeq (mRNA) NM_000407 NM_001001999 NM_010327 RefSeq (protein) NP_000398 NP_001001999 NP_034457 Location (UCSC) Chr 22: 19.72 – 19.72 Mb Chr 16: 18.44 – 18.44 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Glycoprotein Ib (platelet), beta polypeptide (GP1BB) also known as CD42c (Cluster of Differentiation 42c), is a protein that in humans is encoded by the GP1BB gene.

Function

Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the Glycoprotein Ib-IX-V Receptor Complex (GPIb-V-IX) system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard–Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal within a separate gene (septin 5) located upstream of this gene. In the absence of polyadenylation from its own imperfect site, the septin 5 gene uses the consensus polyA signal of this gene.

Interactions

GP1BB has been shown to interact with YWHAZ.

See also

• Cluster of differentiation

References

1. ^ GRCh38: Ensembl release 89: ENSG00000203618 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000050761 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: GP1BB glycoprotein Ib (platelet), beta polypeptide".
6. Calverley DC, Kavanagh TJ, Roth GJ (February 1998). "Human signaling protein 14-3-3zeta interacts with platelet glycoprotein Ib subunits Ibalpha and Ibbeta". Blood. 91 (4): 1295–303. doi:10.1182/blood.V91.4.1295. PMID 9454760.
7. Du X, Harris SJ, Tetaz TJ, Ginsberg MH, Berndt MC (July 1994). "Association of a phospholipase A2 (14-3-3 protein) with the platelet glycoprotein Ib-IX complex". J. Biol. Chem. 269 (28): 18287–90. doi:10.1016/S0021-9258(17)32301-3. PMID 8034572.
8. Feng S, Christodoulides N, Reséndiz JC, Berndt MC, Kroll MH (January 2000). "Cytoplasmic domains of GpIbalpha and GpIbbeta regulate 14-3-3zeta binding to GpIb/IX/V". Blood. 95 (2): 551–7. doi:10.1182/blood.V95.2.551. PMID 10627461. S2CID 77799615.

Further reading

• Kunishima S, Kamiya T, Saito H (2002). "Genetic abnormalities of Bernard-Soulier syndrome". Int. J. Hematol. 76 (4): 319–27. doi:10.1007/BF02982690. PMID 12463594. S2CID 23635810.
• Clemetson KJ (2007). "A short history of platelet glycoprotein Ib complex". Thromb. Haemost. 98 (1): 63–8. doi:10.1160/th07-05-0327. PMID 17597992.
• Wardell MR, Reynolds CC, Berndt MC, Wallace RW, Fox JE (1989). "Platelet glycoprotein Ib beta is phosphorylated on serine 166 by cyclic AMP-dependent protein kinase". J. Biol. Chem. 264 (26): 15656–61. doi:10.1016/S0021-9258(19)84882-2. PMID 2504723.
• Andrews RK, Booth WJ, Gorman JJ, Castaldi PA, Berndt MC (1989). "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. doi:10.1021/bi00447a009. PMID 2557900.
• Berndt MC, Gregory C, Kabral A, Zola H, Fournier D, Castaldi PA (1985). "Purification and preliminary characterization of the glycoprotein Ib complex in the human platelet membrane". Eur. J. Biochem. 151 (3): 637–49. doi:10.1111/j.1432-1033.1985.tb09152.x. PMID 3161731.
• Lopez JA, Chung DW, Fujikawa K, Hagen FS, Davie EW, Roth GJ (1988). "The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence". Proc. Natl. Acad. Sci. U.S.A. 85 (7): 2135–9. Bibcode:1988PNAS...85.2135L. doi:10.1073/pnas.85.7.2135. PMC 279943. PMID 3353370.
• Canfield VA, Ozols J, Nugent D, Roth GJ (1987). "Isolation and characterization of the alpha and beta chains of human platelet glycoprotein Ib". Biochem. Biophys. Res. Commun. 147 (2): 526–34. doi:10.1016/0006-291X(87)90963-6. PMID 3632685.
• Hickey MJ, Hagen FS, Yagi M, Roth GJ (1993). "Human platelet glycoprotein V: characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins". Proc. Natl. Acad. Sci. U.S.A. 90 (18): 8327–31. Bibcode:1993PNAS...90.8327H. doi:10.1073/pnas.90.18.8327. PMC 47349. PMID 7690959.
• 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. doi:10.1074/jbc.270.24.14693. PMID 7782333.
• Yagi M, Edelhoff S, Disteche CM, Roth GJ (1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta". J. Biol. Chem. 269 (26): 17424–7. doi:10.1016/S0021-9258(17)32456-0. PMID 8021244.
• Du X, Harris SJ, Tetaz TJ, Ginsberg MH, Berndt MC (1994). "Association of a phospholipase A2 (14-3-3 protein) with the platelet glycoprotein Ib-IX complex". J. Biol. Chem. 269 (28): 18287–90. doi:10.1016/S0021-9258(17)32301-3. PMID 8034572.
• Kelly MD, Essex DW, Shapiro SS, Meloni FJ, Druck T, Huebner K, Konkle BA (1994). "Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22". J. Clin. Invest. 93 (6): 2417–24. doi:10.1172/JCI117249. PMC 294449. PMID 8200976.
• Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA (1996). "Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome". J. Biol. Chem. 271 (36): 22076–80. doi:10.1074/jbc.271.36.22076. PMID 8703016.
• Zieger B, Hashimoto Y, Ware J (1997). "Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence". J. Clin. Invest. 99 (3): 520–5. doi:10.1172/JCI119188. PMC 507827. PMID 9022087.
• Kunishima S, Lopez JA, Kobayashi S, Imai N, Kamiya T, Saito H, Naoe T (1997). "Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder". Blood. 89 (7): 2404–12. doi:10.1182/blood.V89.7.2404. PMID 9116284.
• Andrews RK, Harris SJ, McNally T, Berndt MC (1998). "Binding of purified 14-3-3 zeta signaling protein to discrete amino acid sequences within the cytoplasmic domain of the platelet membrane glycoprotein Ib-IX-V complex". Biochemistry. 37 (2): 638–47. doi:10.1021/bi970893g. PMID 9425086.
• 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. doi:10.1046/j.1432-1327.1999.00467.x. PMID 10429193.
• Feng S, Christodoulides N, Reséndiz JC, Berndt MC, Kroll MH (2000). "Cytoplasmic domains of GpIbalpha and GpIbbeta regulate 14-3-3zeta binding to GpIb/IX/V". Blood. 95 (2): 551–7. doi:10.1182/blood.V95.2.551. PMID 10627461. S2CID 77799615.
• Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D (2000). "Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome". Blood. 96 (2): 532–9. doi:10.1182/blood.V96.2.532. PMID 10887115.
• Kasirer-Friede A, Ware J, Leng L, Marchese P, Ruggeri ZM, Shattil SJ (2002). "Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3". J. Biol. Chem. 277 (14): 11949–56. doi:10.1074/jbc.M108727200. PMID 11812775.

External links

• GP1BB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Platelet glycoprotein Ib beta chain (GP1BB)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

• Genes on human chromosome 22
• Clusters of differentiation