• Gene id: 79001

Gene Summary

• Gene Symbol: VKORC1   Gene   UCSC   Ensembl
• Aliases: EDTP308, MST134, MST576, VKCFD2, VKOR
• Gene name: vitamin K epoxide reductase complex subunit 1
• Alternate names: vitamin K epoxide reductase complex subunit 1, phylloquinone epoxide reductase, vitamin K dependent clotting factors deficiency 2, vitamin K1 2,3-epoxide reductase subunit 1, vitamin K1 epoxide reductase (warfarin-sensitive),
• Gene location: 16p11.2 (31094998: 31090841)     Exons: 4     NC_000016.10
• Gene summary(Entrez): This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for c

Protein Summary

• Protein general information: Q9BQB6  
  • Name: Vitamin K epoxide reductase complex subunit 1 (EC 1.17.4.4) (Vitamin K1 2,3 epoxide reductase subunit 1)
  • Length: 163  
  • Mass: 18235
  • Tissue specificity: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas. {ECO
• Sequence:

  MGSTWGSPGWVRLALCLTGLVLSLYALHVKAARARDRDYRALCDVGTAISCSRVFSSRWGRGFGLVEHVLGQDSI
  LNQSNSIFGCIFYTLQLLLGCLRTRWASVLMLLSSLVSLAGSVYLAWILFFVLYDFCIVCITTYAINVSLMWLSF
  RKVQEPQGKAKRH

• Structural information:
  • Interpro: IPR012932  IPR038354  IPR042406  
  • CDD: cd12917
  • STRING: ENSP00000378426
• Other Databases: GeneCards:  VKORC1  Malacards:  VKORC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007596	blood coagulation	IBA	biological process
GO:0047057	vitamin-K-epoxide reductase (warfarin-sensitive) activity	IBA	molecular function
GO:0017187	peptidyl-glutamic acid carboxylation	IBA	biological process
GO:0042373	vitamin K metabolic process	IBA	biological process
GO:0047057	vitamin-K-epoxide reductase (warfarin-sensitive) activity	IDA	molecular function
GO:0042373	vitamin K metabolic process	IDA	biological process
GO:0007596	blood coagulation	IMP	biological process
GO:0060348	bone development	ISS	biological process
GO:0017187	peptidyl-glutamic acid carboxylation	IMP	biological process
GO:0047057	vitamin-K-epoxide reductase (warfarin-sensitive) activity	IEA	molecular function
GO:0042373	vitamin K metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0048038	quinone binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042373	vitamin K metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047057	vitamin-K-epoxide reductase (warfarin-sensitive) activity	IEA	molecular function
GO:0046677	response to antibiotic	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0047058	vitamin-K-epoxide reductase (warfarin-insensitive) activity	IEA	molecular function
GO:0030193	regulation of blood coagulation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0017144	drug metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00130	Ubiquinone and other terpenoid-quinone biosynthesis

Diseases

Associated diseases	References
Coumarin resistance	KEGG:H01205
Combined deficiency of vitamin K-dependent clotting factors	KEGG:H00995
Combined deficiency of vitamin K-dependent clotting factors	KEGG:H00995
Inherited blood coagulation disease	PMID:14765194
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq