CYB5A - cytochrome b5 type A Gene

Also Known as CYB5; MCB5; METAG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1528

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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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)	≥ 90%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17657	Androst-5-enediol sulfate sodium		99.90%	Unkown
HY-RS03417	CYB5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19185	Cyb5a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25673	Cyb5a Rat Pre-designed siRNA Set A	Pre-designed Set	/	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