VKORC1L1 (vitamin K epoxide reductase complex subunit 1 like 1)

2014-11-01  

Identity

HGNC
VKORC1L1
LOCATION
7q11.21
LOCUSID
154807
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 154807
MIM: 608838
HGNC: 21492
Ensembl: ENSG00000196715

Variants:

dbSNP: 154807
ClinVar: 154807
TCGA: ENSG00000196715
COSMIC: VKORC1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196715ENST00000360768Q8N0U8
ENSG00000196715ENST00000434382Q8N0U8
ENSG00000196715ENST00000648179Q8N0U8
ENSG00000196715ENST00000648187A0A3B3ISV4

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
Metabolism of vitamin KREACTOMER-HSA-6806664

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451906warfarinChemicalClinicalAnnotationassociatedPD29054760

References

Pubmed IDYearTitleCitations
147651942004Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.234
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
213678612011Human vitamin K 2,3-epoxide reductase complex subunit 1-like 1 (VKORC1L1) mediates vitamin K-dependent intracellular antioxidant function.33
239283582013VKORC1L1, an enzyme rescuing the vitamin K 2,3-epoxide reductase activity in some extrahepatic tissues during anticoagulation therapy.18
245327912014Conserved loop cysteines of vitamin K epoxide reductase complex subunit 1-like 1 (VKORC1L1) are involved in its active site regeneration.15
297431762018Warfarin and vitamin K epoxide reductase: a molecular accounting for observed inhibition.5
179969242008No association between vitamin K epoxide reductase complex subunit 1-like 1 (VKORC1L1) and the variability of warfarin dose requirement in a Japanese patient population.3
295811082018VKORC1 and VKORC1L1 have distinctly different oral anticoagulant dose-response characteristics and binding sites.3
290547602018Polymorphisms of vitamin K-related genes (EPHX1 and VKORC1L1) and stable warfarin doses.0

Citation

Dessen P

VKORC1L1 (vitamin K epoxide reductase complex subunit 1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75609/vkorc1l1