CYB5A - cytochrome b5 type A Gene

Homo sapiens

Also known as CYB5; MCB5; METAG

Gene ID: 1528 | Gene type: protein coding

About CYB5A

Cytogenetic location: 18q22.3 Genomic coordinates (GRCh38): 18:74,250,846-74,291,963 (from NCBI)

This gene has 7 transcripts (splice variants), 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in liver (RPKM 226.1), kidney (RPKM 141.0) and 16 other tissues.

Summary

The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

CYB5A Products(3)

mRNA	Protein	Name
NM_001190807.3	NP_001177736.1	cytochrome b5 isoform 3
NM_001914.4	NP_001905.1	cytochrome b5 isoform 2
NM_148923.4	NP_683725.1	cytochrome b5 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	15680923	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	22375059	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

CYB5A Protein Structure

Cyt-b5

0
100
134 a.a.

Protein Preferred Names

Protein Names

cytochrome b5

cytochrome b5 type A (microsomal)

CYB5A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CYB5A	P00167	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	CYB5A	P00167	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	CYB5A	P00167	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	CYB5A	P00167	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	CYB5A	P00167	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	CYB5A	P00167	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	CYB5A	P00167	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	CYB5A	P00167	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	CYB5A	P00167	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	CYB5A	P00167	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	CYB5A	P00167	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	CYB5A	P00167	WFS1	Homo sapiens	O76024	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CYB5A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7858	Cytochrome b5/CYB5A Protein, Human (His)	P00167 (M1-D134)	≥95%

Related Diseases

Diseases

Alias

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

Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency

Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	17-Alpha-Hydroxylase Deficiency
Deficiency Of Steroid 17-Alpha-Monooxygenase	Isolated 17,20-Lyase Deficiency
Adrenal Hyperplasia V	Congenital Adrenal Hyperplasia Type 5
17,20-Lyase Deficiency, Isolated	17-Alpha-Hydroxylase/17,20-Lyase Deficiency
17 Alpha-Hydroxylase/17,20-Lyase Deficiency	17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency	Cah Due To 17-Alpha-Hydroxylase Deficiency
Combined 17-Hydroxylase/17,20-Lyase Deficiency	46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
17 Alpha Hydroxylase Deficiency	Congenital Adrenal Hyperplasia Due To 17 Alpha-Hydroxylase Deficiency
Adrenal Hyperplasia 5	AH5
Adrenal Hyperplasia Type V	Ah-V
Adrenal Hyperplasia, Congenital, Type 5

Methemoglobinemia

Congenital Methemoglobinemia

Hereditary Methemoglobinemia	Autosomal Recessive Methemoglobinemia
Methemoglobinemia Hereditary	Hemoglobin M Disease

Antley-Bixler Syndrome

Trapezoidocephaly Synostosis Syndrome	Trapezoidocephaly-Synostosis Syndrome
Antley Bixler Syndrome	Multisynostotic Osteodysgenesis With Long Bone Fractures
Osteodysgenesis, Multisynostotic With Fractures	Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome Phenotype

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Adenoma Adrenocortical

Oral Mucosa Leukoplakia

Leukoplakia, Oral

Leukoplakia Of Buccal Mucosa

Alzheimer Disease 13

AD13	Alzheimer Disease-13
Alzheimer'S Disease 13	Alzheimer'S Disease 13, Late Onset

Humeroradial Synostosis

Humero-Radial Fusion	Humero-Radial Synostosis
Ramer Ladda Syndrome

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency	Sulfocysteinuria
Isolated Sulfite Oxidase Deficiency	ISOD
Encephalopathy Due To Sulfite Oxidase Deficiency

Hemoglobinopathy

Hemoglobinopathies

Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital	Anemia, Hemolytic, Congenital
Congenital Hemolytic Anaemia	Hereditary Hemolytic Anaemia
Hereditary Hemolytic Anemia

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia	Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Congenital Lipoid Adrenal Hyperplasia	Lipoid Cah
Lipoid Adrenal Hyperplasia	Adrenal Hyperplasia 1
Cah	Clah
LCAH	Adrenal Hyperplasia I
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism	Congenital Adrenal Hyperplasia Lipoid
Adrenal Hyperplasia, Congenital	Congenital Adrenal Hyperplasia, Lipoid
AH1	Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
Adrenal Hyperplasia Congenital	Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency	Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Gland Hyperplasia	Congenital Adrenogenital Syndrome
Congenital Hyperadrenocorticism	Congenital Adrenogenitalism
Congenital Female Adrenal Pseudohermaphroditism

Lynch Syndrome I

Lynch Syndrome 1	Colorectal Cancer, Hereditary Nonpolyposis, Type 1
HNPCC1	Fcc1
Lynch Syndrome Ii	Colon Cancer, Familial Nonpolyposis, Type 1
Coca1	Familial Nonpolyposis Colon Cancer Type 1
Hereditary Nonpolyposis Colorectal Cancer Type 1	Hereditary Non-Polyposis Colorectal Cancer 1
Hereditary Non-Polyposis Colorectal Cancer 3	Hnpcc3
Lynch Cancer Family Syndrome	Lynch Syndrome
Lynch Syndrome Type I	Lynch Syndrome Type Ii
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1	Hereditary Nonpolyposis Colorectal Cancer
Colorectal Cancer, Hereditary Nonpolyposis, Type 3	Hereditary Non-Polyposis Colon Cancer Type 2

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03417	CYB5A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CYB5A	VGNC	VGNC:61308
Bos taurus	CYB5A	VGNC	VGNC:50260
Macaca mulatta	CYB5A	VGNC	VGNC:103805
Rattus norvegicus	CYB5A	RGD	RGD:620558
Mus musculus	CYB5A	MGD	MGI:1926952
Others	CYB5A	NCBI

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