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

Gene ID: 154807, updated on 1-Jun-2020

Summary

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
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

Genomic context

See VKORC1L1 in Genome Data Viewer
Location:
7q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (65865772..65959558)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65338257..65424545)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC84214 Neighboring gene RNA, U6 small nuclear 973, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 75 Neighboring gene glucuronidase beta Neighboring gene uncharacterized LOC105375336 Neighboring gene CGRP receptor component pseudogene

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp762H0113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
quinone binding 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-glutamic acid carboxylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-glutamic acid carboxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
vitamin K metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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-like protein 1
Names
VKORC1-like protein 1
NP_001271271.1
NP_775788.2
XP_011514133.1

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_051954.1 RefSeqGene

    Range
    4976..91460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001284342.3NP_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:1865
    VKOR; Vitamin K epoxide reductase (VKOR) family
  2. NM_173517.6NP_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
    Q8N0U8
    UniProtKB/TrEMBL
    A8K0F7
    Related
    ENSP00000353998.2, ENST00000360768.5
    Conserved Domains (1) summary
    cd12917
    Location:18156
    VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011515831.3XP_011514133.1  vitamin K epoxide reductase complex subunit 1-like protein 1 isoform X1

    Conserved Domains (1) summary
    cd12917
    Location:36127
    VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants
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