GP1BB
entrez
2812
canonical
uniprot
P13224
canonical
ensembl
ENSG00000203618
resolver
ensp
ENSP00000383382
resolver
genesymbol
GP1BB
resolver
hgnc
HGNC:4440
resolver
uniprot
Q14422
resolver
uniprot
Q8NG40
resolver
uniprot_entry
GP1BB_HUMAN
resolver
uniprot_sec
Q14422
resolver
uniprot_sec
Q8NG40
resolver
amino_acid_sequence
MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES
uniprot
proteins
disease_involvement
DISEASE: Bernard-Soulier syndrome (BSS) [MIM:231200]: An autosomal recessive coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269|PubMed:9116284}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
21718
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
17008541
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
20946164
uniprot
proteins
pubmed
21908432
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2504723
uniprot
proteins
pubmed
3353370
uniprot
proteins
pubmed
3632685
uniprot
proteins
pubmed
8021244
uniprot
proteins
pubmed
8200976
uniprot
proteins
pubmed
9022087
uniprot
proteins
pubmed
9116284
uniprot
proteins
sequence_length
206
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 148..172; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins