Homo sapiens Gene: GP1BA | |||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||
Genomic Location | Chromosome 17:4932297-4935030 | ||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||
Band | p13.2 | ||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Hematopoietic cell lineage pathway
ECM-receptor interaction pathway
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INOH | |||||||||||||||||||||
PID NCI |
Beta2 integrin cell surface interactions
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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 | |||||||||||||||||||||