Vkorc1 vitamin K epoxide reductase complex, subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vkorc1provided by MGI
Official Full Name: vitamin K epoxide reductase complex, subunit 1provided by MGI
Primary source: MGI:MGI:106442
See related: Ensembl:ENSMUSG00000096145 AllianceGenome:MGI:106442
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D7Wsu86e
Summary: Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. [provided by RefSeq, Jul 2008]
Expression: Broad expression in liver adult (RPKM 270.9), liver E18 (RPKM 177.3) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 69.81 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (127492235..127494833, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (127893063..127895658, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Large-scale identification of rodenticide resistance in Rattus norvegicus and Mus musculus in the Netherlands based on Vkorc1 codon 139 mutations.
Title: Large-scale identification of rodenticide resistance in Rattus norvegicus and Mus musculus in the Netherlands based on Vkorc1 codon 139 mutations.
VKORC1 single nucleotide polymorphisms in rodents in Spain.
Title: VKORC1 single nucleotide polymorphisms in rodents in Spain.
Widespread resistance to anticoagulant rodenticides in Mus musculus domesticus in the city of Barcelona.
Title: Widespread resistance to anticoagulant rodenticides in Mus musculus domesticus in the city of Barcelona.
A VKORC1-based SNP survey of anticoagulant rodenticide resistance in the house mouse, Norway rat and roof rat in the USA.
Title: A VKORC1-based SNP survey of anticoagulant rodenticide resistance in the house mouse, Norway rat and roof rat in the USA.
The presence of two of the most commonly found amino acid substitutions Leu128Ser and Tyr139Cys associated with house mouse resistance to anticoagulant rodenticides was confirmed. The occurrence of two such mutations is indicative of the occurrence of resistance to anticoagulant rodenticides in house mice in the Eastern region of the island of Ireland.
Title: VKORC1 sequence variants associated with resistance to anticoagulant rodenticides in Irish populations of Rattus norvegicus and Mus musculus domesticus.
quantified mRNA levels for VKORC1, VKORC1L1, GGCX, and NQO1 and measured VKOR enzymatic activities in 29 different tissues
Title: Two enzymes catalyze vitamin K 2,3-epoxide reductase activity in mouse: VKORC1 is highly expressed in exocrine tissues while VKORC1L1 is highly expressed in brain.
OCN is gamma-carboxylated by the gamma-carboxylase (GGCX) on three glutamic acid residues, a cellular process requiring reduction of vitamin K by a second enzyme, VKORC1.
Title: GGCX and VKORC1 inhibit osteocalcin endocrine functions.
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.
The three most frequently found sequence variants are associated with a substantial loss of rodenticide efficacy of first-generation anticoagulants, as well as the second-generation compound bromadiolone and most probably also difenacoum.
Title: Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculus.
role in vitamin K-dependent gamma-glutamyl carboxylation; the knockout mice die within 20 days after birth due to intracerebral haemorrhage
Title: VKORC1 deficiency in mice causes early postnatal lethality due to severe bleeding.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (2) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125932 (e-PCR)
- UniSTS:142710

RH124934 (e-PCR)
- UniSTS:161756

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables quinone binding	IEA Inferred from Electronic Annotation more info
enables vitamin-K-epoxide reductase (warfarin-insensitive) activity	IEA Inferred from Electronic Annotation more info
enables vitamin-K-epoxide reductase (warfarin-insensitive) activity	ISO Inferred from Sequence Orthology more info
enables vitamin-K-epoxide reductase (warfarin-sensitive) activity	IDA Inferred from Direct Assay more info	PubMed
enables vitamin-K-epoxide reductase (warfarin-sensitive) activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to vitamin-K-epoxide reductase (warfarin-sensitive) activity	ISO Inferred from Sequence Orthology more info
enables vitamin-K-epoxide reductase (warfarin-sensitive) activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood coagulation	ISO Inferred from Sequence Orthology more info
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-glutamic acid carboxylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-glutamic acid carboxylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood coagulation	ISO Inferred from Sequence Orthology more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vitamin K biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in vitamin K metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vitamin K metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin K metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin K metabolic process	ISO Inferred from Sequence Orthology more info
involved_in xenobiotic metabolic process	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: vitamin K epoxide reductase complex subunit 1

Names: phylloquinone epoxide reductase; vitamin K 2,3-epoxide reductase complex subunit 1; vitamin K epoxide reductase subunit I; vitamin K1 2,3-epoxide reductase subunit 1; vitamin K1 epoxide reductase (warfarin-sensitive)

NP_848715.1

EC 1.17.4.4

XP_030098508.1

EC 1.17.4.4

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.

mRNA and Protein(s)

NM_178600.2 → NP_848715.1 vitamin K epoxide reductase complex subunit 1

See identical proteins and their annotated locations for NP_848715.1

Status: REVIEWED

Source sequence(s)

AK003237, CD774913

Consensus CDS

CCDS21883.1

UniProtKB/Swiss-Prot

Q9CRC0

UniProtKB/TrEMBL

A0A7T8CZJ9, A0A7T8CZQ8, A0A7T8I0U4, A0A7T8I110, A0A7T8I144, G3BKB2, G3CE70

Related

ENSMUSP00000033074.7, ENSMUST00000033074.8

Conserved Domains (1) summary

cd12917
Location:25 → 149

VKOR_euk; Vitamin K epoxide reductase family in eukaryotes, excluding plants

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

127492235..127494833 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030242648.2 → XP_030098508.1 vitamin K epoxide reductase complex subunit 1 isoform X1

Conserved Domains (1) summary

cl01729
Location:25 → 58

VKOR; Vitamin K epoxide reductase (VKOR) family