GP1BB (glycoprotein Ib platelet subunit beta)

2014-11-01 Affiliation

HGNC

GP1BB

LOCATION

22q11.21

LOCUSID

2812

ALIAS

BDPLT1,BS,CD42C,GPIBB,GPIbbeta

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

dbSNP: 2812
ClinVar: 2812
TCGA: ENSG00000203618
COSMIC: GP1BB

Gene ID	Transcript ID	Uniprot
ENSG00000203618	ENST00000366425	P13224

Pathway	Source	External ID
ECM-receptor interaction	KEGG	ko04512
Hematopoietic cell lineage	KEGG	ko04640
ECM-receptor interaction	KEGG	hsa04512
Hematopoietic cell lineage	KEGG	hsa04640
Platelet activation	KEGG	hsa04611
Hemostasis	REACTOME	R-HSA-109582
Platelet Adhesion to exposed collagen	REACTOME	R-HSA-75892
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
GP1b-IX-V activation signalling	REACTOME	R-HSA-430116
Platelet Aggregation (Plug Formation)	REACTOME	R-HSA-76009
Formation of Fibrin Clot (Clotting Cascade)	REACTOME	R-HSA-140877
Intrinsic Pathway of Fibrin Clot Formation	REACTOME	R-HSA-140837

Entity ID	Name	Type	Evidence	Association	PMIDs
PA26716	COL3A1	Gene	Pathway	associated	20938371
PA26717	COL4A1	Gene	Pathway	associated	20938371
PA26718	COL4A2	Gene	Pathway	associated	20938371
PA33384	PLCB1	Gene	Pathway	associated	20938371
PA33393	PLCG2	Gene	Pathway	associated	20938371
PA35041	COL1A1	Gene	Pathway	associated	20938371
PA35042	COL1A2	Gene	Pathway	associated	20938371

Pubmed ID	Year	Title	Citations
18752571	2008	Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes.	49
15213102	2004	Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.	24
12361948	2002	Regulation of glycoprotein Ib-IX-von Willebrand factor interaction by cAMP-dependent protein kinase-mediated phosphorylation at Ser 166 of glycoprotein Ib(beta).	21
12860973	2003	Critical roles for the COOH-terminal NITY and RGT sequences of the integrin beta3 cytoplasmic domain in inside-out and outside-in signaling.	20
20946164	2011	TNF receptor-associated factor 4 (TRAF4) is a novel binding partner of glycoprotein Ib and glycoprotein VI in human platelets.	20
21037087	2011	Key role of glycoprotein Ib/V/IX and von Willebrand factor in platelet activation-dependent fibrin formation at low shear flow.	19
21908432	2011	Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.	18
18674540	2008	Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex.	17
11812775	2002	Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3.	15
17922811	2007	Role of the transmembrane domain of glycoprotein IX in assembly of the glycoprotein Ib-IX complex.	15

Dessen P

GP1BB (glycoprotein Ib platelet subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01