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

    Gene ID: 79001, updated on 19-Sep-2021

    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
    NEW
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    Genomic context

    See VKORC1 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (31090854..31094797, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31102175..31106118, 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 keto acid 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.
    GeneReviews: Not available
    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
    GeneReviews: Not available
    Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.
    GeneReviews: Not available
    Vitamin K-dependent clotting factors, combined deficiency of, 2
    MedGen: C1843832 OMIM: 607473 GeneReviews: Not available
    Compare labs
    Warfarin response
    MedGen: C0750384 OMIM: 122700 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    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
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables quinone binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables vitamin-K-epoxide reductase (warfarin-sensitive) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-glutamic acid carboxylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in peptidyl-glutamic acid carboxylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vitamin K metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vitamin K metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      5159..9102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_582

    mRNA and Protein(s)

    1. NM_001311311.2NP_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
      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, ENST00000394975.3
      Conserved Domains (1) summary
      cd12917
      Location:10149
      VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants
    3. NM_206824.3NP_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
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      31090854..31094797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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