Homo sapiens Gene: GP1BA
Summary
InnateDB Gene IDBG-20143.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GP1BA
Gene Name glycoprotein Ib (platelet), alpha polypeptide
Synonyms BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha; DBPLT3; GP1B; GPIbA; VWDP
Species Homo sapiens
Ensembl Gene ENSG00000185245
Encoded Proteins
glycoprotein Ib (platelet), alpha polypeptide
glycoprotein Ib (platelet), alpha polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. [provided by RefSeq, Mar 2010]
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:4932297-4935030
Strand Forward strand
Band p13.2
Transcripts
ENST00000329125 ENSP00000329380
ENST00000611961 ENSP00000484439
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 21 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015057 thrombin receptor activity
Biological Process
GO:0000902 cell morphogenesis
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0007599 hemostasis
GO:0030168 platelet activation
GO:0030193 regulation of blood coagulation
GO:0042730 fibrinolysis
GO:0070493 thrombin receptor signaling pathway
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0031362 anchored component of external side of plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Platelet Adhesion to exposed collagen pathway
Intrinsic Pathway pathway
GP1b-IX-V activation signalling pathway
Platelet Aggregation (Plug Formation) pathway
Formation of Fibrin Clot (Clotting Cascade) pathway
Platelet activation, signaling and aggregation pathway
Hemostasis pathway
KEGG
Hematopoietic cell lineage pathway
ECM-receptor interaction pathway
INOH
PID NCI
Beta2 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.1472
RefSeq NM_000173
HUGO
OMIM
CCDS CCDS54068
HPRD 01976
IMGT
EMBL
GenPept
RNA Seq Atlas