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VKORC1 vitamin K epoxide reductase complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 79001, updated on 7-Dec-2018

Summary

Official Symbol
VKORC1provided by HGNC
Official Full Name
vitamin K epoxide reductase complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:23663
See related
Ensembl:ENSG00000167397 MIM:608547
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VKOR; MST134; MST576; VKCFD2; EDTP308
Summary
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 carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in liver (RPKM 74.3), fat (RPKM 26.7) and 25 other tissues See more
Orthologs

Genomic context

See VKORC1 in Genome Data Viewer
Location:
16p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (31090842..31094999, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31102175..31106699, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 668 Neighboring gene zinc finger protein 646 Neighboring gene serine protease 53 Neighboring gene branched chain ketoacid dehydrogenase kinase Neighboring gene lysine acetyltransferase 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Vitamin k-dependent clotting factors, combined deficiency of, 2
MedGen: C1843832 OMIM: 607473 GeneReviews: Not available
Compare labs
Warfarin response
MedGen: CN078029 OMIM: 122700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.
NHGRI GWA Catalog
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
NHGRI GWA Catalog
Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of vitamin K, organism-specific biosystem (from REACTOME)
    Metabolism of vitamin K, organism-specific biosystemVitamin K is a required co-factor in a single metabolic reaction, the gamma-carboxylation of glutamate residues of proteins catalyzed by GGCX (gamma-carboxyglutamyl carboxylase). Substrates of GGCX i...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Ubiquinone and other terpenoid-quinone biosynthesis, organism-specific biosystem (from KEGG)
    Ubiquinone and other terpenoid-quinone biosynthesis, organism-specific biosystemUbiquinone (UQ), also called coenzyme Q, and plastoquinone (PQ) are electron carriers in oxidative phosphorylation and photosynthesis, respectively. The quinoid nucleus of ubiquinone is derived from ...
  • Ubiquinone and other terpenoid-quinone biosynthesis, conserved biosystem (from KEGG)
    Ubiquinone and other terpenoid-quinone biosynthesis, conserved biosystemUbiquinone (UQ), also called coenzyme Q, and plastoquinone (PQ) are electron carriers in oxidative phosphorylation and photosynthesis, respectively. The quinoid nucleus of ubiquinone is derived from ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2694, FLJ00289, IMAGE3455200

Gene Ontology Provided by GOA

Function Evidence Code Pubs
quinone binding IEA
Inferred from Electronic Annotation
more info
 
vitamin-K-epoxide reductase (warfarin-insensitive) activity IEA
Inferred from Electronic Annotation
more info
 
vitamin-K-epoxide reductase (warfarin-sensitive) activity EXP
Inferred from Experiment
more info
PubMed 
vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
blood coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
bone development ISS
Inferred from Sequence or Structural Similarity
more info
 
drug metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-glutamic acid carboxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of blood coagulation IEA
Inferred from Electronic Annotation
more info
 
response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to organonitrogen compound IEA
Inferred from Electronic Annotation
more info
 
vitamin K metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
vitamin K metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
vitamin K epoxide reductase complex subunit 1
Names
phylloquinone epoxide reductase
vitamin K dependent clotting factors deficiency 2
vitamin K1 2,3-epoxide reductase subunit 1
vitamin K1 epoxide reductase (warfarin-sensitive)
NP_001298240.1
NP_076869.1
NP_996560.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011564.1 RefSeqGene

    Range
    4957..9114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001311311.1NP_001298240.1  vitamin K epoxide reductase complex subunit 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AK312005, BM663008, CN484751, DB064454
    UniProtKB/Swiss-Prot
    Q9BQB6
    Related
    ENSP00000326135.7, ENST00000319788.11
    Conserved Domains (1) summary
    cd12917
    Location:10177
    VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants
  2. NM_024006.6NP_076869.1  vitamin K epoxide reductase complex subunit 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_076869.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. It encodes isoform 1, which is shorter than isoform 3.
    Source sequence(s)
    AY358456, AY423044, BC002911, BI822140
    Consensus CDS
    CCDS10703.1
    UniProtKB/Swiss-Prot
    Q9BQB6
    UniProtKB/TrEMBL
    A0A0S2Z6I4
    Related
    ENSP00000378426.2, ENST00000394975.2
    Conserved Domains (1) summary
    cd12917
    Location:10149
    VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants
  3. NM_206824.2NP_996560.1  vitamin K epoxide reductase complex subunit 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_996560.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate internal exons, resulting in a frame-shift compared to variant 3. It encodes isoform 2, which is shorter than and has a distinct C-terminus compared to isoform 3.
    Source sequence(s)
    AK129513, BI822140, BM663008, DB064454
    Consensus CDS
    CCDS10704.1
    UniProtKB/Swiss-Prot
    Q9BQB6
    UniProtKB/TrEMBL
    A0A0S2Z5X7
    Related
    ENSP00000346969.4, ENST00000354895.4
    Conserved Domains (1) summary
    cl01729
    Location:1058
    VKOR; Vitamin K epoxide reductase (VKOR) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    31090842..31094999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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