InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: THBD

Summary

InnateDB Protein

IDBP-59475.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

THBD

Protein Name

thrombomodulin

Synonyms

AHUS6; BDCA3; CD141; THPH12; THRM; TM;

Species

Homo sapiens

Ensembl Protein

ENSP00000366307

InnateDB Gene

IDBG-59473 (THBD)

Protein Structure

UniProt Annotation

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 Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Thrombophilia due to thrombomodulin defect (THPH12) [MIM:614486]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269PubMed:12139752, ECO:0000269PubMed:7811989, ECO:0000269PubMed: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.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. {ECO:0000269PubMed:19625716, ECO:0000269PubMed: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.

Tissue Specificity

Endothelial cells are unique in synthesizing thrombomodulin.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0004888	transmembrane signaling receptor activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0030246	carbohydrate binding

Biological Process

GO:0007165	signal transduction
GO:0007565	female pregnancy
GO:0007596	blood coagulation
GO:0010165	response to X-ray
GO:0010544	negative regulation of platelet activation
GO:0030195	negative regulation of blood coagulation
GO:0032496	response to lipopolysaccharide
GO:0050900	leukocyte migration
GO:0051591	response to cAMP
GO:0051918	negative regulation of fibrinolysis

Cellular Component

GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001304 C-type lectin
IPR001491 Thrombomodulin
IPR001881 EGF-like calcium-binding domain
IPR015149 Thrombomodulin-like, EGF-like
IPR016187 C-type lectin fold
IPR016316 Complement component C1q/Thrombomodulin

PFAM

PF00008
PF00059
PF07645
PF09064

PRINTS

PR00907

PIRSF

PIRSF001775

SMART

SM00181
SM00034
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References