InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GP1BA

Summary

InnateDB Protein

IDBP-20145.7

Last Modified

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

Gene Symbol

GP1BA

Protein Name

glycoprotein Ib (platelet), alpha polypeptide

Synonyms

BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha; DBPLT3; GP1B; GPIbA; VWDP;

Species

Homo sapiens

Ensembl Protein

ENSP00000329380

InnateDB Gene

IDBG-20143 (GP1BA)

Protein Structure

UniProt Annotation

Function

GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: An ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non- existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. {ECO:0000269PubMed:14711733}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269PubMed:10089893, ECO:0000269PubMed:1730088, ECO:0000269PubMed:7690774, ECO:0000269PubMed:7819107, ECO:0000269PubMed:7873390, ECO:0000269PubMed:9639514}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]: A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. {ECO:0000269PubMed:11222377}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pseudo-von Willebrand disease (VWDP) [MIM:177820]: A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. {ECO:0000269PubMed:14521605, ECO:0000269PubMed:2052556, ECO:0000269PubMed:8384898, ECO:0000269PubMed:8486780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000372 Leucine-rich repeat-containing N-terminal
IPR000483 Cysteine-rich flanking region, C-terminal
IPR001611 Leucine-rich repeat
IPR003591 Leucine-rich repeat, typical subtype

PFAM

PF01462
PF01463
PF00560
PF13504
PF13855

PRINTS

PIRSF

SMART

SM00013
SM00082
SM00369

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P07359