UniProt functional annotation for P14770



	UniProt functional annotation for P14770

UniProt code: P14770.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib.

Subunit: Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage.

Subcellular location: Membrane; Single-pass type I membrane protein.

Disease: Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269|PubMed:10583255, ECO:0000269|PubMed:11167791, ECO:0000269|PubMed:11758225, ECO:0000269|PubMed:12100158, ECO:0000269|PubMed:8481514, ECO:0000269|PubMed:9163595, ECO:0000269|PubMed:9886312}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib.


Subunit:		Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage.
Subcellular location:		Membrane; Single-pass type I membrane protein.
Disease:		Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269\|PubMed:10583255, ECO:0000269\|PubMed:11167791, ECO:0000269\|PubMed:11758225, ECO:0000269\|PubMed:12100158, ECO:0000269\|PubMed:8481514, ECO:0000269\|PubMed:9163595, ECO:0000269\|PubMed:9886312}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.