InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GP1BB

Summary

InnateDB Gene

IDBG-121855.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GP1BB

Gene Name

glycoprotein Ib (platelet), beta polypeptide

Synonyms

BDPLT1; BS; CD42C; GPIBB

Species

Homo sapiens

Ensembl Gene

ENSG00000203618

Encoded Proteins

IDBP-228022

glycoprotein Ib (platelet), beta polypeptide

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 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 in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 22:19722945-19724771

Strand

Forward strand

Band

q11.21

Transcripts

ENST00000366425

ENSP00000383382

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	12 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0005515	protein binding

Biological Process

GO:0007155	cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007596	blood coagulation
GO:0007597	blood coagulation, intrinsic pathway
GO:0030168	platelet activation

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000050761

View Gene Order

ENSBTAG00000039059

Not yet available

Pathways

NETPATH

REACTOME

REACT_1230

Platelet Adhesion to exposed collagen pathway

REACT_326

Intrinsic Pathway pathway

REACT_23847

GP1b-IX-V activation signalling pathway

REACT_278

Platelet Aggregation (Plug Formation) pathway

REACT_2051

Formation of Fibrin Clot (Clotting Cascade) pathway

REACT_798

Platelet activation, signaling and aggregation pathway

REACT_604

Hemostasis pathway

KEGG

hsa04640

Hematopoietic cell lineage pathway

hsa04512

ECM-receptor interaction pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.283743

RefSeq

NM_000407

HUGO

OMIM

CCDS

CCDS42980

HPRD

00729

IMGT

EMBL

GenPept

RNA Seq Atlas