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MGP003127

UniProt Annotations

Entry Information
Gene Namethrombomodulin
Protein EntryTRBM_HUMAN
UniProt IDP07204
SpeciesHuman
Comments
Comment typeDescription
DiseaseHemolytic 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. {ECO:0000269|PubMed:19625716, ECO:0000269|PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
DiseaseThrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269|PubMed:12139752, ECO:0000269|PubMed:7811989, ECO:0000269|PubMed:9198186}. 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.
FunctionThrombomodulin 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.
InteractionP00734:F2; NbExp=4; IntAct=EBI-941422, EBI-297094;
PtmN-glycosylated. {ECO:0000269|PubMed:8216207}.
PtmThe iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. {ECO:0000269|PubMed:8390446}.
SimilarityContains 1 C-type lectin domain. {ECO:0000255|PROSITE- ProRule:PRU00040}.
SimilarityContains 6 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
Tissue SpecificityEndothelial cells are unique in synthesizing thrombomodulin.
Web ResourceName=Functional Glycomics Gateway - Glycan Binding; Note=Thrombomodulin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_211";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/thbd/";
Web ResourceName=Wikipedia; Note=Thrombomodulin entry; URL="http://en.wikipedia.org/wiki/Thrombomodulin";
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