2. Gene
  3. CYB5R3 - cytochrome b5 reductase 3 Gene

CYB5R3 - cytochrome b5 reductase 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as B5R; DIA1

Gene ID: 1727 | Gene type: protein coding

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 Reference 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 Reference Source
involved in nitric oxide biosynthetic process IDA
IDA: Inferred from direct assay
24500710 GOA
Cellular Component GO Annotation Evidence Reference 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

FAD_binding_6: Oxidoreductase FAD-binding domain (45 - 150)

NAD_binding_1

NAD_binding_1: Oxidoreductase NAD-binding domain (177 - 284)

  • 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 Reference
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

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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-103061 Dehydro-ZINC39395747 99.20% Unkown
HY-RS03421 CYB5R3 Human Pre-designed siRNA Set A Pre-designed Sets / 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