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

CYB5R3 - cytochrome b5 reductase 3 Gene

中文名称:细胞色素 b5 还原酶 3

种属: Homo sapiens

同用名: B5R; DIA1

基因 ID: 1727 | 基因类型: protein coding

关于 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.


该基因编码细胞色素 b5 还原酶,包括体细胞中的膜结合形式 (锚定在内质网、线粒体和其他膜中) 和红细胞中的可溶形式。膜结合形式主要存在于内质网的细胞质侧,并在脂肪酸的去饱和和延伸、胆固醇生物合成和药物代谢中发挥作用。红细胞形式位于循环红细胞的可溶部分中,并参与高铁血红蛋白的减少。膜结合形式具有膜结合和催化结构域,而可溶形式只有催化结构域。交替剪接导致多个转录本变体。该基因的突变会导致高铁血红蛋白血症。[RefSeq 提供,2010 年 1 月]

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 基因产物(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 蛋白结构


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


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

  • 0
  • 100
  • 200
  • 301 a.a.
蛋白主名 其他名称

NADH-cytochrome b5 reductase 3

NADH-cytochrome b5 reductase 3 membrane-bound form


疾病名称 别名
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


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


Monkeypox Virus Infections



Human Balantidiasis

B Coli Infection

Balantidium Coli Infection

Large-Intestinal Infection With Balantidium Coli

Ciliary Dysentery

Acquired Methemoglobinemia

Drug-Induced Methemoglobinemia

Methemoglobinemia Acquired

Variola Minor





Erythrocytosis, Familial, 8

Diphosphoglycerate Mutase Deficiency Of Erythrocyte


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


Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia

Variola Major




Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Erythrocytosis, Familial, 6


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


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


Restrictive Cardiomyopathy 1


Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1


Contagious Pustular Dermatitis

Ecthyma, Contagious


Ecthyma Contagiosum

Scabby Mouth

Sheep Pox

Thistle Disease

Contagious Pustular Dermatosis

Heinz Body Anemias

Heinz Body Anemia

Heinz Body Anemias, Alpha-


Anemia, Heinz Body

Acquired Heinz Body Anemia

疾病名称 别名
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


种属 基因名 来源 基因 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