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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]
GP1BA (Glycoprotein Ib Platelet Subunit Alpha) is a Protein Coding gene. Diseases associated with GP1BA include Pseudo-Von Willebrand Disease and Bernard-Soulier Syndrome, Type A2, Autosomal Dominant. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and amb2 Integrin signaling. Gene Ontology (GO) annotations related to this gene include thrombin-activated receptor activity. An important paralog of this gene is ENSG00000126500.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 1730602 |
GO:0015057 | thrombin-activated receptor activity | TAS | 12855810 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 3353370 |
GO:0009986 | cell surface | HDA | 23382103 |
GO:0016020 | membrane | IEA,IDA | 15297306 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Formation of Fibrin Clot (Clotting Cascade) | ||
2 | Response to elevated platelet cytosolic Ca2+ |
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3 | ECM-receptor interaction | ||
4 | Hematopoietic cell lineage | ||
5 | Platelet activation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0007155 | cell adhesion | IDA | 9410473 |
GO:0007166 | cell surface receptor signaling pathway | TAS | 3353370 |
GO:0007596 | blood coagulation | IMP,TAS | -- |
GO:0007597 | blood coagulation, intrinsic pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Aspirin | Approved, Vet_approved | Pharma | Channel blocker | 1512 | ||
Dexibuprofen | Approved, Investigational | Pharma | Target | 0 | ||
Ibuprofen | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, inducer | 716 | ||
Egaptivon pegol | Investigational | Pharma | Target | 0 | ||
liposomal prostaglandin E1 | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GP1BA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gp1ba 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gp1ba 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GP1BA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GP1BA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | CU896563.2 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4339 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
626958 | Uncertain Significance: Thrombocytopenia | 4,932,948(+) | T/C | MISSENSE_VARIANT | |
627001 | Pathogenic: Macrothrombocytopenia | 4,932,751(+) | AAC/A | FRAMESHIFT_VARIANT | |
627016 | Likely Pathogenic: Macrothrombocytopenia | 4,932,775(+) | C/A | MISSENSE_VARIANT | |
627031 | Uncertain Significance: Macrothrombocytopenia | 4,932,804(+) | T/G | MISSENSE_VARIANT | |
627062 | Likely Pathogenic: Thrombocytopenia | 4,933,011(+) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3088n100 | CNV | gain | 25217958 |
esv2715560 | CNV | deletion | 23290073 |
esv3572365 | CNV | gain | 25503493 |
nsv1149679 | CNV | deletion | 26484159 |
nsv574273 | CNV | gain | 21841781 |
nsv574275 | CNV | gain | 21841781 |
nsv819218 | CNV | loss | 19587683 |
nsv833347 | CNV | loss | 17160897 |
nsv833349 | CNV | loss | 17160897 |
nsv833350 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudo-von willebrand disease |
|
|
bernard-soulier syndrome, type a2, autosomal dominant |
|
|
bernard-soulier syndrome |
|
|
nonarteritic anterior ischemic optic neuropathy |
|
|
von willebrand's disease |
|