ENSG00000167397


Homo sapiens

Features
Gene ID: ENSG00000167397
  
Biological name :VKORC1
  
Synonyms : Q9BQB6 / vitamin K epoxide reductase complex subunit 1 / VKORC1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p11.2
Gene start: 31090842
Gene end: 31095980
  
Corresponding Affymetrix probe sets: 217949_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000378422
Ensembl peptide - ENSP00000378426
Ensembl peptide - ENSP00000458994
Ensembl peptide - ENSP00000437064
Ensembl peptide - ENSP00000417662
Ensembl peptide - ENSP00000300851
Ensembl peptide - ENSP00000326135
Ensembl peptide - ENSP00000346969
NCBI entrez gene - 79001     See in Manteia.
OMIM - 608547
RefSeq - NM_024006
RefSeq - NM_206824
RefSeq - NM_001311311
RefSeq Peptide - NP_001298240
RefSeq Peptide - NP_076869
RefSeq Peptide - NP_996560
swissprot - I3L1P9
swissprot - A8MV79
swissprot - Q9BQB6
swissprot - A0A0S2Z6I4
swissprot - A0A0S2Z5X7
swissprot - F2Z3Q2
swissprot - F8W9H0
swissprot - H0YF24
Ensembl - ENSG00000167397
  
Related genetic diseases (OMIM): 122700 - Warfarin resistance, 122700
  607473 - Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 vkorc1ENSDARG00000086183Danio rerio


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC135050.2ENSG0000025543961


Protein motifs (from Interpro)
Interpro ID Name
 IPR012932  Vitamin K epoxide reductase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0017144 drug metabolic process IMP
 biological_processGO:0017187 peptidyl-glutamic acid carboxylation IMP
 biological_processGO:0042373 vitamin K metabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060348 bone development ISS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0047057 vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA
 molecular_functionGO:0048038 quinone binding IEA


Pathways (from Reactome)
Pathway description
Metabolism of vitamin K


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001871 Hematological abnormality 
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 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0008169 Factor VII deficiency 
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 HP:0008321 Factor X deficiency 
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 HP:0011858 Reduced factor IX activity "Decreased activity of `coagulation factor IX` (PR:000007303). Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson]
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 HP:0012201 Reduced prothrombin activity "Decreased activity of coagulation factor II, which is also known as prothrombin." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000167397 Q9BQB6 / VKORC1 / vitamin K epoxide reductase complex subunit 1  / complex






 

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