CYB5R3 (cytochrome b5 reductase 3)

2014-08-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
B5R,DIA1
FUSION GENES

Other Information

Locus ID:

NCBI: 1727
MIM: 613213
HGNC: 2873
Ensembl: ENSG00000100243

Variants:

dbSNP: 1727
ClinVar: 1727
TCGA: ENSG00000100243
COSMIC: CYB5R3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100243ENST00000352397P00387
ENSG00000100243ENST00000361740P00387
ENSG00000100243ENST00000402438P00387
ENSG00000100243ENST00000407332P00387
ENSG00000100243ENST00000407623P00387
ENSG00000100243ENST00000438270B1AHF3

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin C (ascorbate) metabolismREACTOMER-HSA-196836
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10176rasburicaseChemicalLabelAnnotationassociated
PA164748741mepivacaineChemicalLabelAnnotationassociated
PA166115361sodium nitriteChemicalLabelAnnotationassociated
PA166176018lidocaine / prilocaineChemicalLabelAnnotationassociated
PA166182735lidocaine and tetracaineChemicalLabelAnnotationassociated
PA166182783articaine / epinephrineChemicalLabelAnnotationassociated
PA166182885oxymetazoline and tetracaineChemicalLabelAnnotationassociated
PA27068CYB5AGenePathwayassociated23913015
PA444684Kidney Failure, ChronicDiseaseVariantAnnotationassociatedPD11418378
PA444942MethemoglobinemiaDiseaseVariantAnnotationassociatedPD11418378
PA448866ceftriaxoneChemicalLabelAnnotationassociated
PA448946chloroprocaineChemicalLabelAnnotationassociated
PA449211dapsoneChemicalLabelAnnotationassociated
PA450125isosorbide dinitrateChemicalLabelAnnotationassociated
PA450126isosorbide mononitrateChemicalLabelAnnotationassociated
PA450457methylene blueChemicalLabelAnnotationassociated
PA450475metoclopramideChemicalLabelAnnotation, VariantAnnotationassociatedPD11418378
PA451103primaquineChemicalLabelAnnotation, MultilinkAnnotationassociated25058800
PA451271ropivacaineChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
176204072007Dia1 and IQGAP1 interact in cell migration and phagocytic cup formation.93
159443962005RhoB regulates endosome transport by promoting actin assembly on endosomal membranes through Dia1.53
199970422010Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction.20
212664632011An RNA-zipcode-independent mechanism that localizes Dia1 mRNA to the perinuclear ER through interactions between Dia1 nascent peptide and Rho-GTP.15
231135542014Human cytochrome b5 reductase: structure, function, and potential applications.15
244508842014Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2.14
155022982004Structure of human erythrocyte NADH-cytochrome b5 reductase.13
286718192017Efficient Reduction of Vertebrate Cytoglobins by the Cytochrome b5/Cytochrome b5 Reductase/NADH System.10
183436962008Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.8
214476082011Individual variability in the detoxification of carcinogenic arylhydroxylamines in human breast.6

Citation

Dessen P

CYB5R3 (cytochrome b5 reductase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54246/cyb5r3-(cytochrome-b5-reductase-3)