CYB5R3 - cytochrome b5 reductase 3 Gene

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

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

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		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.