InnateDB Protein
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IDBP-27710.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VKORC1
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Protein Name
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vitamin K epoxide reductase complex, subunit 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000346969
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InnateDB Gene
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IDBG-27704 (VKORC1)
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Protein Structure
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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}.
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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}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 91 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
91
[view]
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Protein-Protein |
90
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0047057
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vitamin-K-epoxide reductase (warfarin-sensitive) activity
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GO:0048038
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quinone binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR012932
Vitamin K epoxide reductase
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PFAM |
PF07884
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PRINTS |
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PIRSF |
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SMART |
SM00756
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BQB6
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PhosphoSite |
PhosphoSite-Q9BQB6
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79001
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UniGene |
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RefSeq |
NP_996560
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HUGO |
HGNC:23663
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OMIM |
608547
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CCDS |
CCDS10704
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HPRD |
10540
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IMGT |
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EMBL |
AC135050
AF176924
AK289790
AK312005
AY358456
AY423044
AY466113
AY521634
AY587020
BC002911
CH471192
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GenPept |
AAH02911
AAQ13668
AAQ88821
AAR28759
AAR82914
AAS01052
AAS83106
BAF82479
BAG34943
EAW52167
EAW52168
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