GP1BA
entrez
2811
canonical
uniprot
P07359
canonical
ensembl
ENSG00000185245
resolver
ensp
ENSP00000329380
resolver
enst
ENST00000329125
resolver
genesymbol
GP1BA
resolver
hgnc
HGNC:4439
resolver
uniprot
E7ES66
resolver
uniprot
L7UYB8
resolver
uniprot
Q14441
resolver
uniprot
Q16469
resolver
uniprot
Q8N1F3
resolver
uniprot
Q8NG39
resolver
uniprot
Q9HDC7
resolver
uniprot
Q9UEK1
resolver
uniprot
Q9UQS4
resolver
uniprot_entry
GP1BA_HUMAN
resolver
uniprot_entry
L7UYB8_HUMAN
resolver
uniprot_sec
E7ES66
resolver
uniprot_sec
Q14441
resolver
uniprot_sec
Q16469
resolver
uniprot_sec
Q8N1F3
resolver
uniprot_sec
Q8NG39
resolver
uniprot_sec
Q9HDC7
resolver
uniprot_sec
Q9UEK1
resolver
uniprot_sec
Q9UQS4
resolver
amino_acid_sequence
MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLTTTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFWLLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL
uniprot
proteins
disease_involvement
DISEASE: Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. {ECO:0000269|PubMed:14711733}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; 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:10089893, ECO:0000269|PubMed:1730088, ECO:0000269|PubMed:7690774, ECO:0000269|PubMed:7819107, ECO:0000269|PubMed:7873390, ECO:0000269|PubMed:9639514}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]: A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. {ECO:0000269|PubMed:11222377}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: von Willebrand disease, platelet-type (VWDP) [MIM:177820]: An autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. {ECO:0000269|PubMed:14521605, ECO:0000269|PubMed:2052556, ECO:0000269|PubMed:8384898, ECO:0000269|PubMed:8486780}. 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 the A1 domain of vWF, which is already bound to the subendothelium.
uniprot
proteins
mass_dalton
71540
uniprot
proteins
mutagenesis
MUTAGEN 249; /note="G->A: No change."; /evidence="ECO:0000269|PubMed:14521605"; MUTAGEN 249; /note="G->K,D: Decreased binding to vWF."; /evidence="ECO:0000269|PubMed:14521605"; MUTAGEN 249; /note="G->S,V: Increased binding to vWF."; /evidence="ECO:0000269|PubMed:14521605
uniprot
proteins
post_translational_modification
PTM: Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein. {ECO:0000269|PubMed:17445093}.
uniprot
proteins
pubmed
10089893
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
11222377
uniprot
proteins
pubmed
11858495
uniprot
proteins
pubmed
12038791
uniprot
proteins
pubmed
12087105
uniprot
proteins
pubmed
12183630
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14521605
uniprot
proteins
pubmed
14711733
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1577776
uniprot
proteins
pubmed
1586750
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17008541
uniprot
proteins
pubmed
1730088
uniprot
proteins
pubmed
17445093
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
19828450
uniprot
proteins
pubmed
2052556
uniprot
proteins
pubmed
2070794
uniprot
proteins
pubmed
21552524
uniprot
proteins
pubmed
2845978
uniprot
proteins
pubmed
3303030
uniprot
proteins
pubmed
3497398
uniprot
proteins
pubmed
36740532
uniprot
proteins
pubmed
7632942
uniprot
proteins
pubmed
7690774
uniprot
proteins
pubmed
7819107
uniprot
proteins
pubmed
7873390
uniprot
proteins
pubmed
8384898
uniprot
proteins
pubmed
8486780
uniprot
proteins
pubmed
9088113
uniprot
proteins
pubmed
9639514
uniprot
proteins
pubmed
9651345
uniprot
proteins
sequence_length
652
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 532..552; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins