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MIRAGE

cytochrome b5 reductase 3

Summary

Gene Symbol

CYB5R3

Aliases

B5R
NADH-cytochrome b5 reductase 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

1727

HGNC

2873

KEGG Gene ID

hsa:1727

PubChem

1727

Alliance of Genome Resources

HGNC:2873

JoGo

CYB5R3

TogoVar

CYB5R3

Annotation

Keyword

3D-structure
Acetylation
Alternative promoter usage
Alternative splicing
Cholesterol biosynthesis
Cytoplasm
Direct protein sequencing
Disease variant
Endoplasmic reticulum
FAD
Mitochondrion outer membrane
Myristate
NAD
Oxidoreductase
Phosphoprotein
Proteomics identification
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
P00387	Diaphorase-1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process
nitric oxide biosynthetic process	IDA
blood circulation	TAS

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

nitric oxide biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

reactive nitrogen species metabolic process [inference]

nitric oxide metabolic process [inference]

nitric oxide biosynthetic process

multicellular organismal process [inference]

system process [inference]

circulatory system process [inference]

blood circulation

Displaying entries **1 - 5** of 25 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
cytoplasm	EXP
cytoplasm	TAS
cytoplasm	IEA
mitochondrion	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

hemoglobin complex

catalytic complex [inference]

oxidoreductase complex [inference]

nitric-oxide synthase complex

cellular anatomical structure [inference]

outer membrane [inference]

organelle outer membrane [inference]

mitochondrial outer membrane

organelle membrane [inference]

endoplasmic reticulum membrane

mitochondrial membrane

mitochondrial outer membrane

bounding membrane of organelle [inference]

organelle outer membrane [inference]

mitochondrial outer membrane

external encapsulating structure [inference]

glycocalyx [inference]

sperm glycocalyx

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

azurophil granule lumen

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

lipid droplet

cytoskeleton [inference]

perinuclear theca

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular membraneless organelle [inference]

lipid droplet

cytoskeleton [inference]

perinuclear theca

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
cytochrome-b5 reductase activity, acting on NAD(P)H	TAS
cytochrome-b5 reductase activity, acting on NAD(P)H	IDA
cytochrome-b5 reductase activity, acting on NAD(P)H	IMP
cytochrome-b5 reductase activity, acting on NAD(P)H	IBA
cytochrome-b5 reductase activity, acting on NAD(P)H	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity

oxidoreductase activity, acting on NAD(P)H [inference]

oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor [inference]

cytochrome-b5 reductase activity, acting on NAD(P)H

cytochrome-b5 reductase activity, acting on NADH

oxidoreductase activity, acting on other nitrogenous compounds as donors [inference]

oxidoreductase activity, acting on other nitrogenous compounds as donors, cytochrome as acceptor [inference]

nitrite reductase (NO-forming) activity

nitrite reductase activity [inference]

nitrite reductase (NO-forming) activity

binding [inference]

protein binding

small molecule binding [inference]

ion binding [inference]

anion binding [inference]

flavin adenine dinucleotide binding [inference]

FAD binding

heterocyclic compound binding [inference]

nucleotide binding [inference]

flavin adenine dinucleotide binding [inference]

FAD binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

flavin adenine dinucleotide binding [inference]

FAD binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

nadh-cytochrome b5 reductase

Functional Category

I: Lipid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
cytochrome-b5 reductase activity, acting on NAD(P)H
oxidoreductase activity

Displaying **all 7** entries
InterPro
FAD-binding domain, ferredoxin reductase-type
Ferredoxin-NADP reductase (FNR), nucleotide-binding domain
Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain
Flavoprotein pyridine nucleotide cytochrome reductase
NADH
Oxidoreductase FAD/NAD(P)-binding
Riboflavin synthase-like beta-barrel

Human Protein Atlas

ENSG00000100243

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00326

Name

cytochrome-b5 reductase [EC:1.6.2.2]

References

10611283

Rhea

NADH

H⁺ + NAD⁺

Enzyme

1.6.2.2

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:10783	methemoglobinemia	Alliance of Genome Resources
DOID:1612	breast cancer	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 33 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000486	Strabismus
HP:0000565	Esotropia
HP:0000592	Blue sclerae
HP:0000707	Abnormality of the nervous system
HP:0000961	Cyanosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001257	Spasticity

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:250800	methemoglobinemia due to deficiency of methemoglobin reductase
ORPHA:621	hereditary methemoglobinemia

PubChem Disease

GHR Health Conditions

Autosomal recessive congenital methemoglobinemia

MedGen Diseases

Deficiency of cytochrome-b5 reductase

OMIM Phenotypes

METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

KEGG Diseases

Methemoglobinemia

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP006716
Gene Name: cytochrome b5 reductase 3

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.5.0

Last updated: April 6, 2026