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

Gene ID: 154807, updated on 3-Nov-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
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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: HPA RNA-seq normal tissues 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

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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)

Genotypes

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

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