CYB5R3 - cytochrome b5 reductase 3 Gene

Also Known as B5R; DIA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1727

About CYB5R3

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,617,840-42,649,392 (from NCBI)

This gene has 33 transcripts (splice variants), 208 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 110.9), testis (RPKM 52.5) and 24 other tissues.

Summary

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and Other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in Cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]

CYB5R3 Products (5)

mRNA	Protein	Name
NM_000398.7	NP_000389.1	NADH-cytochrome b5 reductase 3 isoform 1
NM_001129819.2	NP_001123291.1	NADH-cytochrome b5 reductase 3 isoform 2
NM_001171660.2	NP_001165131.1	NADH-cytochrome b5 reductase 3 isoform 3
NM_001171661.1	NP_001165132.1	NADH-cytochrome b5 reductase 3 isoform 2
NM_007326.4	NP_015565.1	NADH-cytochrome b5 reductase 3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables FAD binding	IDA IDA: Inferred from direct assay	1400360	GOA
enables cytochrome-b5 reductase activity, acting on NAD(P)H	IDA IDA: Inferred from direct assay	1400360	GOA
enables cytochrome-b5 reductase activity, acting on NAD(P)H	IMP IMP: Inferred from mutant phenotype	1898726	GOA
contributes to nitrite reductase (NO-forming) activity	IDA IDA: Inferred from direct assay	24500710	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23123858	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nitric oxide biosynthetic process	IDA IDA: Inferred from direct assay	24500710	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	9639531	GOA
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	36543799	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	9639531	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	14741744	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	9639531	GOA
part of nitric-oxide synthase complex	IDA IDA: Inferred from direct assay	24500710	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYB5R3 Protein Structure

FAD_binding_6

NAD_binding_1

0
100
200
301 a.a.

Protein Preferred Names	Protein Names
NADH-cytochrome b5 reductase 3	NADH-cytochrome b5 reductase 3 membrane-bound form

CYB5R3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CYB5R3	P00387	ADAM33	Homo sapiens	Q08AM2	Validated Y2H	32296183
Intra	CYB5R3	P00387	GRM2	Homo sapiens	Q14416	Validated Y2H	32296183
Intra	CYB5R3	P00387	COL8A2	Homo sapiens	Q4VAQ0	Validated Y2H	32296183
Intra	CYB5R3	P00387	NRM	Homo sapiens	Q8IXM6	Validated Y2H	32296183
Intra	CYB5R3	P00387	CSGALNACT2	Homo sapiens	Q8N6G5	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC38A7	Homo sapiens	Q9NVC3	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC35B2	Homo sapiens	Q8TB61	Validated Y2H	32296183
Intra	CYB5R3	P00387	ORMDL2	Homo sapiens	Q53FV1	Validated Y2H	32296183
Intra	CYB5R3	P00387	AGTRAP	Homo sapiens	Q6RW13-2	Validated Y2H	32296183
Intra	CYB5R3	P00387	ASGR1	Homo sapiens	P07306	Validated Y2H	32296183
Intra	CYB5R3	P00387	AIG1	Homo sapiens	Q9NVV5-2	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM201	Homo sapiens	Q5SNT2-2	Validated Y2H	32296183
Intra	CYB5R3	P00387	VAMP1	Homo sapiens	P23763-3	Validated Y2H	32296183
Intra	CYB5R3	P00387	STOM	Homo sapiens	P27105	Validated Y2H	32296183
Intra	CYB5R3	P00387	STOM	Homo sapiens	P27105	Anti Tag CoIP	33961781
Intra	CYB5R3	P00387	STOM	Homo sapiens	P27105	Y2H Array	32296183
Intra	CYB5R3	P00387	STOM	Homo sapiens	P27105	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	FAXDC2	Homo sapiens	Q96IV6	Validated Y2H	32296183
Intra	CYB5R3	P00387	FXYD3	Homo sapiens	Q14802-3	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC35A4	Homo sapiens	Q96G79	Validated Y2H	32296183
Intra	CYB5R3	P00387	ZDHHC15	Homo sapiens	Q96MV8	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC13A3	Homo sapiens	Q8WWT9	Validated Y2H	32296183
Intra	CYB5R3	P00387	AQP6	Homo sapiens	Q13520	Validated Y2H	32296183
Intra	CYB5R3	P00387	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	CYB5R3	P00387	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	CYB5R3	P00387	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	CYB5R3	P00387	NXPE3	Homo sapiens	Q969Y0	Validated Y2H	32296183
Intra	CYB5R3	P00387	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Array	32296183
Intra	CYB5R3	P00387	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	HSD17B13	Homo sapiens	Q7Z5P4	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	CYB5R3	P00387	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	SLC10A6	Homo sapiens	Q3KNW5	Validated Y2H	32296183
Intra	CYB5R3	P00387	ELOVL4	Homo sapiens	Q9GZR5	Validated Y2H	32296183
Intra	CYB5R3	P00387	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	CYB5R3	P00387	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	FAM210B	Homo sapiens	Q96KR6	Validated Y2H	32296183
Intra	CYB5R3	P00387	FAM210B	Homo sapiens	Q96KR6	Y2H Array	32296183
Intra	CYB5R3	P00387	FAM210B	Homo sapiens	Q96KR6	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	CYB5R3	P00387	CERS4	Homo sapiens	Q9HA82	Validated Y2H	32296183
Intra	CYB5R3	P00387	CERS4	Homo sapiens	Q9HA82	Y2H Array	32296183
Intra	CYB5R3	P00387	CERS4	Homo sapiens	Q9HA82	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	VMP1	Homo sapiens	Q96GC9	Validated Y2H	32296183
Intra	CYB5R3	P00387	NINJ1	Homo sapiens	Q92982	Validated Y2H	32296183
Intra	CYB5R3	P00387	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	CYB5R3	P00387	MFSD6	Homo sapiens	Q6ZSS7	Validated Y2H	32296183
Intra	CYB5R3	P00387	LAPTM5	Homo sapiens	Q13571	Y2H Array	32296183
Intra	CYB5R3	P00387	LAPTM5	Homo sapiens	Q13571	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	LAPTM5	Homo sapiens	Q13571	Validated Y2H	32296183
Intra	CYB5R3	P00387	FAM3C	Homo sapiens	Q92520	Validated Y2H	32296183
Intra	CYB5R3	P00387	GAST	Homo sapiens	P01350	Validated Y2H	32296183
Intra	CYB5R3	P00387	TNF	Homo sapiens	P01375	Validated Y2H	32296183
Intra	CYB5R3	P00387	ALG8	Homo sapiens	Q9BVK2	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	CYB5R3	P00387	SLC10A1	Homo sapiens	Q14973	Validated Y2H	32296183
Intra	CYB5R3	P00387	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	NSG1	Homo sapiens	P42857	Validated Y2H	32296183
Intra	CYB5R3	P00387	FUNDC2	Homo sapiens	Q9BWH2	Anti Tag CoIP	33961781
Intra	CYB5R3	P00387	FUNDC2	Homo sapiens	Q9BWH2	Validated Y2H	32296183
Intra	CYB5R3	P00387	WFDC2	Homo sapiens	Q14508	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM51	Homo sapiens	Q9NW97	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	TMEM51	Homo sapiens	Q9NW97	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM51	Homo sapiens	Q9NW97	Y2H Array	32296183
Intra	CYB5R3	P00387	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
Intra	CYB5R3	P00387	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	CYB5R3	P00387	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM115	Homo sapiens	Q12893	Y2H Array	32296183
Intra	CYB5R3	P00387	TMEM115	Homo sapiens	Q12893	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	TMEM115	Homo sapiens	Q12893	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	CYB5R3	P00387	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	CYB5R3	P00387	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	CYB5R3	P00387	TMEM79	Homo sapiens	Q9BSE2	Validated Y2H	32296183
Intra	CYB5R3	P00387	PNLIPRP1	Homo sapiens	P54315	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CYB5R3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82842	CYB5R3 Antibody (YA2587)	WB, IHC-P	Human, Rat
HY-P82842A	CYB5R3 Antibody (YA2587)(PBS only)	WB, IHC-P	Human, Rat

Related Diseases

Diseases	Alias
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Type I Nadh-Dependent Methemoglobin Reductase Deficiency Nadh-Cytochrome B5 Reductase Deficiency Deficiency Of Cytochrome-B5 Reductase Nadh Cytochrome B5 Reductase Deficiency Diaphorase Deficiency Methemoglobinemia Type 2 Methemoglobinemia, Congenital, Autosomal Recessive Methemoglobinemia, Type Ii Autosomal Recessive Methemoglobinemia Nadh Diaphorase Deficiency Nadh Methemoglobin Reductase Deficiency Autosomal Recessive Congenital Methemoglobinemia Chronic Familial Methemoglobin Reductase Deficiency Congenital Methemoglobinemia Due To Nadh-Cytochrome B5 Reductase 3 Deficiency Congenital Nadh-Methemoglobin Reductase Deficiency Cytochrome B5 Reductase Deficiency Nadh-Cyb5r Deficiency Methemoglobinemia Cyb5r3-Related METHB-CYB5R3 Methemoglobinemia Congenital Autosomal Recessive Methemoglobinemia Type I Methemoglobinemia Type Ii Nadh-Cytochrome B5 Reductase Deficiency Type I Nadh-Cytochrome B5 Reductase Deficiency Type Ii
Congenital Methemoglobinemia	Hereditary Methemoglobinemia Autosomal Recessive Methemoglobinemia Methemoglobinemia Hereditary Hemoglobin M Disease
Methemoglobinemia
Monkeypox	Monkeypox Virus Infections
Balantidiasis	Balantidiosis Human Balantidiasis B Coli Infection Balantidium Coli Infection Large-Intestinal Infection With Balantidium Coli Ciliary Dysentery
Acquired Methemoglobinemia	Drug-Induced Methemoglobinemia Methemoglobinemia Acquired
Vaccinia
Variola Minor	Alastrim Cottonpox Milkpox Whitepox
Erythrocytosis, Familial, 8	Diphosphoglycerate Mutase Deficiency Of Erythrocyte ECYT8 Bisphosphoglycerate Mutase Deficiency Bisphosphoglyceromutase Deficiency Bpgm Deficiency Dpgm Deficiency Deficiency Of Bisphosphoglycerate Mutase Familial Erythrocytosis 8 Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency Erythrocytosis, Familial, Type 8
Erythrocytosis, Familial, 7	ECYT7 Erythrocytosis 7 Familial Erythrocytosis 7 Erythrocytosis, Alpha-Globin Type Polycythemia, Alpha-Globin Type Alpha-Globin Type Erythrocytosis Alpha-Globin Type Polycythemia
Variola Major	Smallpox
Hemoglobinopathy	Hemoglobinopathies
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Methemoglobinemia And Ambiguous Genitalia	METAG Methemoglobinemia Type Iv Isolated 17,20-Lyase Deficiency, Pure Methemoglobinemia Due To Deficiency Of Cytochrome B5 Methemoglobinemia Type 4 Methemoglobinemia Type Iv, Formerly Methemoglobinemia Due To Deficiency Of Cytochrome B5, Formerly Pure Isolated 17,20-Lyase Deficiency Methemoglobinemia, Type Iv
Cardiomyopathy, Familial Restrictive, 1	RCM1 Restrictive Cardiomyopathy 1 Rcm Familial Restrictive Cardiomyopathy 1 Cardiomyopathy, Familial Restrictive 1 Cardiomyopathy, Restrictive, Familial, Type 1 Rcm-1
Contagious Pustular Dermatitis	Ecthyma, Contagious Orf Ecthyma Contagiosum Scabby Mouth Sheep Pox Thistle Disease Contagious Pustular Dermatosis
Heinz Body Anemias	Heinz Body Anemia Heinz Body Anemias, Alpha- HEIBAN Anemia, Heinz Body Acquired Heinz Body Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103061	Dehydro-ZINC39395747	Inhibitor	98.07%	Unkown
HY-RS17849	Cyb5r3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03421	CYB5R3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24317	Cyb5r3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CYB5R3	MGD	MGI:94893
Bos taurus	CYB5R3	VGNC	VGNC:49054
Macaca mulatta	CYB5R3	VGNC	VGNC:71603
Canis familiaris	CYB5R3	VGNC	VGNC:50283
Rattus norvegicus	CYB5R3	RGD	RGD:2502
Felis catus	CYB5R3	VGNC	VGNC:83863
Others	CYB5R3	NCBI