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    VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 154807, updated on 10-Dec-2024

    Summary

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    Official Symbol
    VKORC1L1provided by HGNC
    Official Full Name
    vitamin K epoxide reductase complex subunit 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:21492
    See related
    Ensembl:ENSG00000196715 MIM:608838; AllianceGenome:HGNC:21492
    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
    Summary
    This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in fat (RPKM 25.2), lung (RPKM 7.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VKORC1L1 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (65865772..65959558)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67087926..67181682)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65338061..65424545)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3129 Neighboring gene RNA, U6 small nuclear 973, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:65337908-65338459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:65339011-65339562 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:65386680-65386862 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 75 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:65434861-65435362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65438978-65439688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65445029-65445789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26076 Neighboring gene glucuronidase beta Neighboring gene uncharacterized LOC105375336 Neighboring gene CGRP receptor component pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The membrane topology of vitamin K epoxide reductase is conserved between human isoforms and the bacterial enzyme. Cao Z, et al. Biochem J, 2016 Apr 1. PMID 26772871
    2. VKORC1 and VKORC1L1: Why do Vertebrates Have Two Vitamin K 2,3-Epoxide Reductases? Oldenburg J, et al. Nutrients, 2015 Jul 30. PMID 26264021, Free PMC Article
    3. Phylogeny of the Vitamin K 2,3-Epoxide Reductase (VKOR) Family and Evolutionary Relationship to the Disulfide Bond Formation Protein B (DsbB) Family. Bevans CG, et al. Nutrients, 2015 Jul 29. PMID 26230708, Free PMC Article
    4. Warfarin and vitamin K epoxide reductase: a molecular accounting for observed inhibition. Wu S, et al. Blood, 2018 Aug 9. PMID 29743176, Free PMC Article
    5. No association between vitamin K epoxide reductase complex subunit 1-like 1 (VKORC1L1) and the variability of warfarin dose requirement in a Japanese patient population. Yin T, et al. Thromb Res, 2008. PMID 17996924

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The disputed loop sequence between the 1st and 2d transmembrane domain of VKOR in the cytoplasm. Using molecular dynamics simulations, a T-shaped stacking interaction between warfarin and Tyr 139, within the proposed TY139A warfarin-binding motif, was seen. Y25, A26, and Y139) were essential for warfarin binding to VKOR, with a reversible dynamic warfarin-binding pocket opening and conformational changes .
      Title: Warfarin and vitamin K epoxide reductase: a molecular accounting for observed inhibition.
    2. we have established KO HEK 293T cell lines that express either endogenously VKORC1 or VKORC1L1, and found that VKORC1 is more sensitive to OACs than VKORC1L1, whereas rodenticides apparently inhibit both VKOR enzymes equally
      Title: VKORC1 and VKORC1L1 have distinctly different oral anticoagulant dose-response characteristics and binding sites.
    3. This study showed that polymorphisms of EPHX1 and VKORC1L1 could be determinants of stable warfarin doses.
      Title: Polymorphisms of vitamin K-related genes (EPHX1 and VKORC1L1) and stable warfarin doses.
    4. a concerted action of the four conserved cysteines of VKORC1L1 for active site regeneration
      Title: Conserved loop cysteines of vitamin K epoxide reductase complex subunit 1-like 1 (VKORC1L1) are involved in its active site regeneration.
    5. The involvement of VKORC1L1 in VKOR activity partly explains the low susceptibility of some extrahepatic tissues to vitamin K antagonists.
      Title: VKORC1L1, an enzyme rescuing the vitamin K 2,3-epoxide reductase activity in some extrahepatic tissues during anticoagulation therapy.
    6. VKORC1L1 is responsible for driving vitamin K-mediated intracellular antioxidation pathways critical to cell survival.
      Title: Human vitamin K 2,3-epoxide reductase complex subunit 1-like 1 (VKORC1L1) mediates vitamin K-dependent intracellular antioxidant function.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. VKORC1L1 does not affect the variability of warfarin dose requirement in a Japanese patient population
      Title: No association between vitamin K epoxide reductase complex subunit 1-like 1 (VKORC1L1) and the variability of warfarin dose requirement in a Japanese patient population.
    9. molecular cloning
      Title: Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp762H0113

    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 EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables vitamin-K-epoxide reductase (warfarin-sensitive) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    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
    		  
    involved_in vitamin K metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vitamin K metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    vitamin K epoxide reductase complex subunit 1-like protein 1
    Names
    VKORC1-like protein 1
    NP_001271271.1
    NP_775788.2
    XP_011514133.1
    XP_047275879.1
    XP_054213319.1
    XP_054213320.1

    NCBI Reference Sequences (RefSeq)

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    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_051954.2 RefSeqGene

      Range
      12304..98788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001284342.3 → NP_001271271.1  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than longer and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC073261, AC093582, AK304077, BM991935, HY064992
      Consensus CDS
      CCDS64663.1
      UniProtKB/Swiss-Prot
      Q8N0U8
      Related
      ENSP00000403077.2, ENST00000434382.2
      Conserved Domains (1) summary
      cl01729
      Location:18 → 65
      VKOR; Vitamin K epoxide reductase (VKOR) family

    2. NM_173517.6 → NP_775788.2  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_775788.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).
      Source sequence(s)
      AC073261, AC093582, AK289522, BM991935, HY064992
      Consensus CDS
      CCDS5529.1
      UniProtKB/Swiss-Prot
      B4E222, E7ETM5, Q6AHW9, Q6TEK6, Q8N0U8
      UniProtKB/TrEMBL
      A8K0F7
      Related
      ENSP00000353998.2, ENST00000360768.5
      Conserved Domains (1) summary
      cd12917
      Location:18 → 156
      VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      65865772..65959558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515831.3 → XP_011514133.1  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform X2

      Conserved Domains (1) summary
      cd12917
      Location:36 → 127
      VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants

    2. XM_047419923.1 → XP_047275879.1  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      67087926..67181682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357345.1 → XP_054213320.1  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform X2

    2. XM_054357344.1 → XP_054213319.1  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0U8.2 GenPept UniProtKB/Swiss-Prot:Q8N0U8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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