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
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
GP1b-IX-V activation signalling pathway
Formation of Fibrin Clot (Clotting Cascade) pathway
Platelet activation, signaling and aggregation pathway
Platelet Adhesion to exposed collagen pathway
Intrinsic Pathway pathway
Platelet Aggregation (Plug Formation) pathway
Hemostasis pathway
KEGG
ECM-receptor interaction pathway
Hematopoietic cell lineage pathway
INOH
PID BIOCARTA
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