RBCC Red Blood Cell Collection

GP1BB_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: GP1BB
Protein names and data: GP1BB_HUMAN , Platelet glycoprotein Ib beta chain; GP-Ib beta; GPIb-beta; GPIbB , Antigen CD42b-beta; CD42c; Flags: Precursor Lenght: 206 a.a.
Mass: 21718 Da
fasta formatted sequence
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.
Disease: ( OMIM: 138720 231200 ) Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Single-pass type I membrane protein.
Tissue specificity: Expressed in heart and brain.

Genetic variants

113 - 113 Y -> C (in BSS). VAR_025000
133 - 133 A -> P (in BSS). VAR_025001

Database cross-references

UniProt: P13224
Ensembl: ENST00000366425
MIM: 138720
MIM: 231200
neXtProt: NX_P13224
Antibodypedia: P13224 (may not find the protein thus also not any antibody)
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