InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VKORC1

Summary

InnateDB Protein

IDBP-240499.5

Last Modified

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

Gene Symbol

VKORC1

Protein Name

vitamin K epoxide reductase complex, subunit 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000378426

InnateDB Gene

IDBG-27704 (VKORC1)

Protein Structure

UniProt Annotation

Function

Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development. {ECO:0000269PubMed:14765194, ECO:0000269PubMed:14765195, ECO:0000269PubMed:15879509, ECO:0000269PubMed:16270630, ECO:0000269PubMed:20978134, ECO:0000269PubMed:22923610}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:14765194, ECO:0000269PubMed:15716279, ECO:0000269PubMed:16270630, ECO:0000269PubMed:20978134, ECO:0000269PubMed:22923610}; Multi-pass membrane protein {ECO:0000269PubMed:14765194, ECO:0000269PubMed:15716279, ECO:0000269PubMed:16270630, ECO:0000269PubMed:20978134, ECO:0000269PubMed:22923610}.

Disease Associations

Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473]: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. {ECO:0000269PubMed:14765194}. Note=The disease is caused by mutations affecting the gene represented in this entry.Coumarin resistance (CMRES) [MIM:122700]: A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti- coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. {ECO:0000269PubMed:14765194, ECO:0000269PubMed:20946155}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas. {ECO:0000269PubMed:14765194}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 91 experimentally validated interaction(s) in this database.

Experimentally validated
Total	91 [view]
Protein-Protein	90 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0047057	vitamin-K-epoxide reductase (warfarin-sensitive) activity
GO:0048038	quinone binding

Biological Process

GO:0007596	blood coagulation
GO:0017144	drug metabolic process
GO:0017187	peptidyl-glutamic acid carboxylation
GO:0042373	vitamin K metabolic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0055114	oxidation-reduction process
GO:0060348	bone development