CYB5R1 (cytochrome b5 reductase 1)

2018-02-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
B5R.1,B5R1,B5R2,NQO3A2,humb5R2
FUSION GENES

Other Information

Locus ID:

NCBI: 51706
MIM: 608341
HGNC: 13397
Ensembl: ENSG00000159348

Variants:

dbSNP: 51706
ClinVar: 51706
TCGA: ENSG00000159348
COSMIC: CYB5R1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159348ENST00000367249Q9UHQ9
ENSG00000159348ENST00000446185H7C0R7

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10176rasburicaseChemicalLabelAnnotationassociated
PA450125isosorbide dinitrateChemicalLabelAnnotationassociated
PA450126isosorbide mononitrateChemicalLabelAnnotationassociated
PA450475metoclopramideChemicalLabelAnnotationassociated
PA451103primaquineChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
271207832016CYB5R1 links epithelial-mesenchymal transition and poor prognosis in colorectal cancer.7

Citation

Dessen P

CYB5R1 (cytochrome b5 reductase 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57352/cyb5r1