CYB5R3 information

CYB5R3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1UMK
Identifiers
Aliases	CYB5R3, B5R, DIA1, cytochrome b5 reductase 3
External IDs	OMIM: 613213; MGI: 94893; GeneCards: CYB5R3; OMA:CYB5R3 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	42,720,870 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	83,056,793 bp
RNA expression pattern
	Top expressed in
	Descending thoracic aorta; ; right coronary artery; ; ascending aorta; ; saphenous vein; ; urethra; ; olfactory bulb; ; popliteal artery; ; tibial arteries; ; skin of hip; ; synovial joint;
	Top expressed in
	ascending aorta; ; aortic valve; ; decidua; ; external carotid artery; ; saccule; ; internal carotid artery; ; tunica media of zone of aorta; ; skin of external ear; ; carotid body; ; otic placode;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	flavin adenine dinucleotide binding; ADP binding; NAD binding; FAD binding; cytochrome-b5 reductase activity, acting on NAD(P)H; AMP binding; oxidoreductase activity; protein binding;
Cellular component	cytoplasm; endoplasmic reticulum membrane; lipid droplet; mitochondrial outer membrane; hemoglobin complex; mitochondrial inner membrane; extracellular exosome; membrane; mitochondrion; endoplasmic reticulum; extracellular region; azurophil granule lumen;
Biological process	steroid metabolic process; sterol biosynthetic process; lipid metabolism; cholesterol metabolic process; blood circulation; cholesterol biosynthetic process; steroid biosynthetic process; L-ascorbic acid metabolic process; xenobiotic metabolic process; neutrophil degranulation;
	Sources:Amigo / QuickGO
Orthologs
	1727
	109754
	ENSG00000100243
	ENSMUSG00000018042
	P00387
	Q9DCN2
	NM_007326; NM_000398; NM_001129819; NM_001171660; NM_001171661
	NM_029787
	NP_000389; NP_001123291; NP_001165131; NP_001165132; NP_015565
	NP_084063
	Wikidata
View/Edit Human	View/Edit Mouse

NADH-cytochrome b5 reductase 3 is an enzyme that in humans is encoded by the CYB5R3 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100243 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000018042 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tomatsu S, Kobayashi Y, Fukumaki Y, Yubisui T, Orii T, Sakaki Y (Aug 1989). "The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene". Gene. 80 (2): 353–61. doi:10.1016/0378-1119(89)90299-0. PMID 2479590.
^ Bull PC, Shephard EA, Povey S, Santisteban I, Phillips IR (Oct 1988). "Cloning and chromosomal mapping of human cytochrome b5 reductase (DIA1)". Annals of Human Genetics. 52 (Pt 4): 263–8. doi:10.1111/j.1469-1809.1988.tb01105.x. PMID 3268037. S2CID 33190583.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100243 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000018042 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2479590-5] Tomatsu S, Kobayashi Y, Fukumaki Y, Yubisui T, Orii T, Sakaki Y (Aug 1989). "The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene". Gene. 80 (2): 353–61. doi:10.1016/0378-1119(89)90299-0. PMID 2479590.

[pmid3268037-6] Bull PC, Shephard EA, Povey S, Santisteban I, Phillips IR (Oct 1988). "Cloning and chromosomal mapping of human cytochrome b5 reductase (DIA1)". Annals of Human Genetics. 52 (Pt 4): 263–8. doi:10.1111/j.1469-1809.1988.tb01105.x. PMID 3268037. S2CID 33190583.

CYB5R3 information

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CYB5R3

22q13 deletion syndrome

Cytochrome b5 reductase

List of OMIM disorder codes