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MGP005842

Record overview

MGPD IDMGP005842
Gene ID79001
SpeciesHomo sapiens (Human)
Gene Namevitamin K epoxide reductase complex, subunit 1
Gene Symbol VKORC1
SynonymsVKOR; MST134; MST576; VKCFD2; EDTP308; IMAGE3455200;
Alternate namesvitamin K epoxide reductase complex subunit 1; phylloquinone epoxide reductase; vitamin K dependent clotting factors deficiency 2; vitamin K1 2,3-epoxide reductase subunit 1; vitamin K1 epoxide reductase (warfarin-sensitive);
Chromosome16
Map Location16p11.2
EC Number1.1.4.1
SummaryVitamin 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. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for VKORC1

Proteins

vitamin K epoxide reductase complex subunit 1 isoform 1 precursor
Refseq ID:NP_076869
Protein GI:13124770
UniProt ID:Q9BQB6
mRNA ID:NM_024006
Length:163
RefSeq Status:
MGSTWGSPGWVRLALCLTGLVLSLYALHVKAARARDRDYRALCDVGTAISCSRVFSSRWGRGFGLVEHVLGQDSILNQSNSIFGCIFYTLQLLLGCLRTR
WASVLMLLSSLVSLAGSVYLAWILFFVLYDFCIVCITTYAINVSLMWLSFRKVQEPQGKAKRH
 
sig_peptide: 1..31
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3301
peptide sequence: 
MGSTWGSPGWVRLALCLTGLVLSLYALHVKA
 
vitamin K epoxide reductase complex subunit 1 isoform 2 precursor
Refseq ID:NP_996560
Protein GI:45827739
UniProt ID:Q9BQB6
mRNA ID:NM_206824
Length:92
RefSeq Status:
MGSTWGSPGWVRLALCLTGLVLSLYALHVKAARARDRDYRALCDVGTAISCSRVFSSRLPADTLGLCPDAAELPGVSRWFCLPGLDPVLRAL
 
sig_peptide: 1..31
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3301
peptide sequence: 
MGSTWGSPGWVRLALCLTGLVLSLYALHVKA

sig_peptide: 1..31
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3301
peptide sequence: 
MGSTWGSPGWVRLALCLTGLVLSLYALHVKA
 
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