GP9
entrez
2815
canonical
uniprot
P14770
canonical
ensembl
ENSG00000169704
resolver
ensp
ENSP00000303942
resolver
ensp
ENSP00000570813
resolver
ensp
ENSP00000570814
resolver
ensp
ENSP00000570815
resolver
ensp
ENSP00000570816
resolver
ensp
ENSP00000625039
resolver
enst
ENST00000307395
resolver
enst
ENST00000900754
resolver
enst
ENST00000900755
resolver
enst
ENST00000900756
resolver
enst
ENST00000900757
resolver
enst
ENST00000954980
resolver
genesymbol
GP9
resolver
hgnc
HGNC:4444
resolver
uniprot
Q14445
resolver
uniprot
Q8N1D1
resolver
uniprot
Q92525
resolver
uniprot_entry
GPIX_HUMAN
resolver
uniprot_sec
Q14445
resolver
uniprot_sec
Q8N1D1
resolver
uniprot_sec
Q92525
resolver
amino_acid_sequence
MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTALPALPARTRHLLLANNSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLEDRTPEALLQVRCASPSLAAHGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAALGLALLAGLLCATTEALD
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: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.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
19046
uniprot
proteins
pubmed
10583255
uniprot
proteins
pubmed
11167791
uniprot
proteins
pubmed
11758225
uniprot
proteins
pubmed
12100158
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2253772
uniprot
proteins
pubmed
2771955
uniprot
proteins
pubmed
3056407
uniprot
proteins
pubmed
8429020
uniprot
proteins
pubmed
8481514
uniprot
proteins
pubmed
9163595
uniprot
proteins
pubmed
9184424
uniprot
proteins
pubmed
9886312
uniprot
proteins
sequence_length
177
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 148..168; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins