Thrombomodulin, soluble Active Protein | THBD active protein
Human Thrombomodulin, soluble
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
Uniprot Description
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.
Subcellular location: Membrane; Single-pass type I membrane protein.
Tissue specificity: Endothelial cells are unique in synthesizing thrombomodulin.
Post-translational modification: N-glycosylated. Ref.8The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
Involvement in 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. Ref.15 Ref.16 Ref.20Hemolytic 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. Ref.21 Ref.22
Sequence similarities: Contains 1 C-type lectin domain.Contains 6 EGF-like domains.
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Product Notes
The THBD thbd (Catalog #AAA691559) is an Active Protein produced from HEK 293 Cells and is intended for research purposes only. The product is available for immediate purchase. The Human Thrombomodulin, soluble reacts with Human and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: APAEPQPGGS QCVEHDCFAL YPGPATFLNA SQICDGLRGH LMTVRS SVAA DVISLLLNGD GGVGRRRLWI GLQLPPGCGD PKRLGPLRGF Q WVTGDNNTS YSRWARLDLN GAPLCGPLCV AVSAAEATVP SEPIWEE QQC EVKADGFLCE FHFPATCRPL AVEPGAAAAA VSITYGTPFA AR GADFQALP VGSSAAVAPL GLQLMCTAPP GAVQGHWARE APGAWDCS VE NGGCEHACNA IPGAPRCQCP AGAALQADGR SCTASATQSC NDL CEHFCVP NPDQPGSYSC MCETGYRLAA DQHRCEDVDD CILEPSPCP Q RCVNTQGGFE CHCYPNYDLV DGECVEPVDP CFRANCEYQC QPLN QTSYLC VCAEGFAPIP HEPHRCQMFC NQTACPADCD PNTQASCECP EGYILDDGFI CTDIDECENG GFCSGVCHNL PGTFECICGP DSALA RHIGT DCDSGKVDGG DSGSGEPPPS PTPGSTLTPP A. It is sometimes possible for the material contained within the vial of "Thrombomodulin, soluble, Active Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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