BACK
HOME
P07359 Proteins with LRR Repeats
Uniprot ID: P07359
Protein name : Platelet glycoprotein Ib alpha chain
Gene : GP1BA
Protein Families :
Squence Length : 652
Sequence
>P07359 653 MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLTTTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFWLLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL
Repeat regions
REPEAT 48 68 LRR 1 REPEAT 72 93 LRR 2 REPEAT 94 115 LRR 3 REPEAT 117 137 LRR 4 REPEAT 141 162 LRR 5 REPEAT 165 186 LRR 6 REPEAT 189 210 LRR 7
Sequence region of repeats
48- 68 TILHLSENLLYTFSLATLMPY 72- 93 TQLNLDRCELTKLQVDGTLPVL 94- 115 GTLDLSHNQLQSLPLLGQTLPA 117- 137 TVLDVSFNRLTSLPLGALRGL 141- 162 QELYLKGNELKTLPPGLLTPTP 165- 186 EKLSLANNNLTELPAGLLNGLE 189- 210 DTLLLQENSLYTIPKGFFGSHL
Domains
DOMAIN 17 47 LRRNT. DOMAIN 221 282 LRRCT
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"
Mutation
"249 249 G->A: No change 249 249 G->K,D: Decreased binding to vWF 249 249 G->S,V: Increased binding to vWF"
Disease
"DISEASE: Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: An 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 Note=Disease susceptibility is associated with variations affecting the gene represented in this entry ; DISEASE: 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 ; 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Pseudo-von Willebrand disease (VWDP) [MIM:177820]: A 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 Note=The disease is caused by mutations affecting the gene represented in this entry"