Homo sapiens Protein: GP1BB
Summary
InnateDB Protein IDBP-228022.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GP1BB
Protein Name glycoprotein Ib (platelet), beta polypeptide
Synonyms BDPLT1; BS; CD42C; GPIBB;
Species Homo sapiens
Ensembl Protein ENSP00000383382
InnateDB Gene IDBG-121855 (GP1BB)
Protein Structure
UniProt Annotation
Function Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations 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:9116284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in heart and brain. {ECO:0000269PubMed:8200976}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 12 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
Biological Process
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0030168 platelet activation
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR000372 Leucine-rich repeat-containing N-terminal
IPR000483 Cysteine-rich flanking region, C-terminal
PFAM PF01462
PF01463
PRINTS
PIRSF
SMART SM00013
SM00082
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P13224
PhosphoSite PhosphoSite-P13224
TrEMBL F1C636
UniProt Splice Variant
Entrez Gene 2812
UniGene Hs.283743
RefSeq NP_000398
HUGO HGNC:4440
OMIM 138720
CCDS CCDS42980
HPRD 00729
IMGT
EMBL AB086231 AF006988 HQ202736 HQ202737 HQ202738 J03259 L20860 U59632
GenPept AAA20398 AAA52594 AAB93437 AAC39781 ADZ28540 ADZ28541 ADZ28542 BAC00777