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FLASH GENE

Symbol

CYB5A

contributors: npt/ - updated : 03-04-2007

HGNC name	cytochrome b5 type A (microsomal)
HGNC id	2570

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CYB5D methemoglobinemia (cytochrome b-5 deficiency) type IV
Location	18q22.3      Physical location : 71.920.527 - 71.959.221
Synonym name	cytochrome b-5
	cytochrome b5 (microsomal)
	type 1 cyt-b5
Synonym symbol(s)	MCB5, CYB5

DNA

TYPE	functioning gene
STRUCTURE	38.70 kb     6 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see MBP

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_148923 5 splicing 820 NP_683725 15 134 - - represents the shorter transcript but encodes the longer isoform NM_001914 6 splicing 844 NP_001905 - 98 liver, erythrocytes - has an additional exon in the 3' coding region has a shorter and distinct C-terminus

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine         liver       highly Endocrine pancreas       highly Lymphoid/Immune thymus         Reproductive male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	cytochrome b5 heme-binding domain
	a blocked N terminus

conjugated

HemoP

HOMOLOGY

interspecies	ortholog to murine Cyb5
	ortholog to rattus cyb5

Homologene

FAMILY

cytochrome b5 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION

cofactor of diaphorase (DIA1), enhancing its ability to catalyze the transfer of electrons from NADH to methemoglobin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	iron Fe2+, Fe3+

protein	interacting with cytochrome P450 2E1
	enhancing 17,20 lyase activity independently of each other, probably by increasing the interaction between P450c17 and NADPH-cytochrome P450 oxidoreductase
	interacting with visinin-like protein-3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CYB5D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS