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P07204 Proteins EGF-like domain Repeats
Uniprot ID:P07204
Protein name: Thrombomodulin
Gene : THBD THRM
Protein Family:
Squence Length : 575
Sequnce
>P07204 576 MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAPGAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDCDSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL
Domains
DOMAIN 31 169 C-type lectin DOMAIN 241 281 EGF-like 1 DOMAIN 284 324 EGF-like 2 DOMAIN 325 363 EGF-like 3 calcium-binding DOMAIN 365 405 EGF-like 4 DOMAIN 404 440 EGF-like 5 DOMAIN 441 481 EGF-like 6 calcium-binding
EGF-like sequence regions
241 - 281 WDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTAS 284 - 324 QSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQHRCEDV 325 - 363 DDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEP 365 - 405 DPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMF 404 - 440 MFCNQTACPADCDPNTQASCECPEGYILDDGFICTDI 441 - 481 DECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDCDSG
Function
"Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated"
Disease
"DISEASE: Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]: A hemostatic disorder characterized by a tendency to thrombosis Note=The disease may be caused by mutations affecting the gene represented in this entry The role of thrombomodulin in thrombosis is controversial It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis ; DISEASE: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]: An atypical form of hemolytic uremic syndrome It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease Note=Disease susceptibility is associated with variations affecting the gene represented in this entry Other genes may play a role in modifying the phenotype"