Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51706
Gene name	Cytochrome b5 reductase 1
Gene symbol	CYB5R1
Synonyms (NCBI Gene)	B5R.1B5R1B5R2NQO3A2humb5R2
Chromosome	1
Chromosome location	1q32.1

205

Show/Hide all (205)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051215	hsa-miR-16-5p	CLASH	23622248
MIRT919530	hsa-miR-1178	CLIP-seq
MIRT919531	hsa-miR-1184	CLIP-seq
MIRT919532	hsa-miR-1976	CLIP-seq
MIRT919533	hsa-miR-2110	CLIP-seq
MIRT919534	hsa-miR-2861	CLIP-seq
MIRT919535	hsa-miR-3065-3p	CLIP-seq
MIRT919536	hsa-miR-3690	CLIP-seq
MIRT919537	hsa-miR-377	CLIP-seq
MIRT919538	hsa-miR-4254	CLIP-seq
MIRT919539	hsa-miR-4271	CLIP-seq
MIRT919540	hsa-miR-4418	CLIP-seq
MIRT919541	hsa-miR-4535	CLIP-seq
MIRT919542	hsa-miR-4725-3p	CLIP-seq
MIRT919543	hsa-miR-4757-5p	CLIP-seq
MIRT919544	hsa-miR-4789-3p	CLIP-seq
MIRT919545	hsa-miR-492	CLIP-seq
MIRT919546	hsa-miR-509-3-5p	CLIP-seq
MIRT919547	hsa-miR-509-5p	CLIP-seq
MIRT1972597	hsa-miR-4700-3p	CLIP-seq
MIRT1972598	hsa-miR-548v	CLIP-seq
MIRT919530	hsa-miR-1178	CLIP-seq
MIRT919537	hsa-miR-377	CLIP-seq
MIRT919544	hsa-miR-4789-3p	CLIP-seq
MIRT2436573	hsa-miR-3064-3p	CLIP-seq
MIRT2436574	hsa-miR-4328	CLIP-seq
MIRT919530	hsa-miR-1178	CLIP-seq
MIRT2511789	hsa-miR-1205	CLIP-seq
MIRT2511790	hsa-miR-1236	CLIP-seq
MIRT2511791	hsa-miR-1237	CLIP-seq
MIRT2511792	hsa-miR-1248	CLIP-seq
MIRT2511793	hsa-miR-1273d	CLIP-seq
MIRT2511794	hsa-miR-1273e	CLIP-seq
MIRT2511795	hsa-miR-1278	CLIP-seq
MIRT2511796	hsa-miR-1291	CLIP-seq
MIRT2511797	hsa-miR-1911	CLIP-seq
MIRT919532	hsa-miR-1976	CLIP-seq
MIRT2511798	hsa-miR-199a-3p	CLIP-seq
MIRT2511799	hsa-miR-199b-3p	CLIP-seq
MIRT2511800	hsa-miR-25	CLIP-seq
MIRT919534	hsa-miR-2861	CLIP-seq
MIRT2436573	hsa-miR-3064-3p	CLIP-seq
MIRT2511801	hsa-miR-3074-5p	CLIP-seq
MIRT2511802	hsa-miR-3129-5p	CLIP-seq
MIRT2511803	hsa-miR-3145-5p	CLIP-seq
MIRT2511804	hsa-miR-3175	CLIP-seq
MIRT2511805	hsa-miR-32	CLIP-seq
MIRT2511806	hsa-miR-328	CLIP-seq
MIRT2511807	hsa-miR-361-5p	CLIP-seq
MIRT2511808	hsa-miR-3619-3p	CLIP-seq
MIRT2511809	hsa-miR-363	CLIP-seq
MIRT2511810	hsa-miR-3665	CLIP-seq
MIRT2511811	hsa-miR-3667-3p	CLIP-seq
MIRT2511812	hsa-miR-367	CLIP-seq
MIRT919536	hsa-miR-3690	CLIP-seq
MIRT919537	hsa-miR-377	CLIP-seq
MIRT2511813	hsa-miR-3915	CLIP-seq
MIRT2511814	hsa-miR-3921	CLIP-seq
MIRT2511815	hsa-miR-3928	CLIP-seq
MIRT919538	hsa-miR-4254	CLIP-seq
MIRT2511816	hsa-miR-4266	CLIP-seq
MIRT2511817	hsa-miR-4287	CLIP-seq
MIRT2511818	hsa-miR-432	CLIP-seq
MIRT2511819	hsa-miR-4326	CLIP-seq
MIRT2436574	hsa-miR-4328	CLIP-seq
MIRT2511820	hsa-miR-4423-5p	CLIP-seq
MIRT2511821	hsa-miR-4426	CLIP-seq
MIRT2511822	hsa-miR-4446-5p	CLIP-seq
MIRT2511823	hsa-miR-4473	CLIP-seq
MIRT2511824	hsa-miR-4494	CLIP-seq
MIRT2511825	hsa-miR-4521	CLIP-seq
MIRT2511826	hsa-miR-4529-5p	CLIP-seq
MIRT919541	hsa-miR-4535	CLIP-seq
MIRT2511827	hsa-miR-4647	CLIP-seq
MIRT2511828	hsa-miR-4649-3p	CLIP-seq
MIRT2511829	hsa-miR-4653-5p	CLIP-seq
MIRT2511830	hsa-miR-4662a-5p	CLIP-seq
MIRT2511831	hsa-miR-4662b	CLIP-seq
MIRT2511832	hsa-miR-4670-3p	CLIP-seq
MIRT2511833	hsa-miR-4685-3p	CLIP-seq
MIRT2511834	hsa-miR-4693-3p	CLIP-seq
MIRT2511835	hsa-miR-4695-5p	CLIP-seq
MIRT1972597	hsa-miR-4700-3p	CLIP-seq
MIRT2511836	hsa-miR-4714-5p	CLIP-seq
MIRT2511837	hsa-miR-4715-3p	CLIP-seq
MIRT2511838	hsa-miR-4738-3p	CLIP-seq
MIRT2511839	hsa-miR-4755-5p	CLIP-seq
MIRT919543	hsa-miR-4757-5p	CLIP-seq
MIRT2511840	hsa-miR-4776-5p	CLIP-seq
MIRT2511841	hsa-miR-4777-5p	CLIP-seq
MIRT2511842	hsa-miR-4779	CLIP-seq
MIRT919544	hsa-miR-4789-3p	CLIP-seq
MIRT919545	hsa-miR-492	CLIP-seq
MIRT2511843	hsa-miR-508-5p	CLIP-seq
MIRT2511844	hsa-miR-512-3p	CLIP-seq
MIRT2511845	hsa-miR-520f	CLIP-seq
MIRT2511846	hsa-miR-548aa	CLIP-seq
MIRT2511847	hsa-miR-548ac	CLIP-seq
MIRT2511848	hsa-miR-548d-3p	CLIP-seq
MIRT1972598	hsa-miR-548v	CLIP-seq
MIRT2511849	hsa-miR-548z	CLIP-seq
MIRT2511850	hsa-miR-550b	CLIP-seq
MIRT2511851	hsa-miR-576-3p	CLIP-seq
MIRT2511852	hsa-miR-636	CLIP-seq
MIRT2511853	hsa-miR-642a	CLIP-seq
MIRT2511854	hsa-miR-651	CLIP-seq
MIRT2511855	hsa-miR-657	CLIP-seq
MIRT2511856	hsa-miR-660	CLIP-seq
MIRT2511857	hsa-miR-7	CLIP-seq
MIRT2511858	hsa-miR-92a	CLIP-seq
MIRT2511859	hsa-miR-92b	CLIP-seq
MIRT2511860	hsa-miR-936	CLIP-seq
MIRT919530	hsa-miR-1178	CLIP-seq
MIRT2511789	hsa-miR-1205	CLIP-seq
MIRT2511790	hsa-miR-1236	CLIP-seq
MIRT2511791	hsa-miR-1237	CLIP-seq
MIRT2511792	hsa-miR-1248	CLIP-seq
MIRT2678911	hsa-miR-1251	CLIP-seq
MIRT2511793	hsa-miR-1273d	CLIP-seq
MIRT2511794	hsa-miR-1273e	CLIP-seq
MIRT2511795	hsa-miR-1278	CLIP-seq
MIRT2511796	hsa-miR-1291	CLIP-seq
MIRT2511797	hsa-miR-1911	CLIP-seq
MIRT919532	hsa-miR-1976	CLIP-seq
MIRT2511798	hsa-miR-199a-3p	CLIP-seq
MIRT2511799	hsa-miR-199b-3p	CLIP-seq
MIRT919533	hsa-miR-2110	CLIP-seq
MIRT2511800	hsa-miR-25	CLIP-seq
MIRT919534	hsa-miR-2861	CLIP-seq
MIRT2436573	hsa-miR-3064-3p	CLIP-seq
MIRT2511801	hsa-miR-3074-5p	CLIP-seq
MIRT2511802	hsa-miR-3129-5p	CLIP-seq
MIRT2511803	hsa-miR-3145-5p	CLIP-seq
MIRT2511804	hsa-miR-3175	CLIP-seq
MIRT2511805	hsa-miR-32	CLIP-seq
MIRT2511806	hsa-miR-328	CLIP-seq
MIRT2511807	hsa-miR-361-5p	CLIP-seq
MIRT2511808	hsa-miR-3619-3p	CLIP-seq
MIRT2511809	hsa-miR-363	CLIP-seq
MIRT2511810	hsa-miR-3665	CLIP-seq
MIRT2511811	hsa-miR-3667-3p	CLIP-seq
MIRT2511812	hsa-miR-367	CLIP-seq
MIRT919536	hsa-miR-3690	CLIP-seq
MIRT919537	hsa-miR-377	CLIP-seq
MIRT2511813	hsa-miR-3915	CLIP-seq
MIRT2511814	hsa-miR-3921	CLIP-seq
MIRT2511815	hsa-miR-3928	CLIP-seq
MIRT919538	hsa-miR-4254	CLIP-seq
MIRT2511816	hsa-miR-4266	CLIP-seq
MIRT919539	hsa-miR-4271	CLIP-seq
MIRT2511817	hsa-miR-4287	CLIP-seq
MIRT2678912	hsa-miR-4293	CLIP-seq
MIRT2511818	hsa-miR-432	CLIP-seq
MIRT2511819	hsa-miR-4326	CLIP-seq
MIRT2436574	hsa-miR-4328	CLIP-seq
MIRT2511820	hsa-miR-4423-5p	CLIP-seq
MIRT2511821	hsa-miR-4426	CLIP-seq
MIRT2511822	hsa-miR-4446-5p	CLIP-seq
MIRT2511823	hsa-miR-4473	CLIP-seq
MIRT2511824	hsa-miR-4494	CLIP-seq
MIRT2511825	hsa-miR-4521	CLIP-seq
MIRT2511826	hsa-miR-4529-5p	CLIP-seq
MIRT919541	hsa-miR-4535	CLIP-seq
MIRT2511827	hsa-miR-4647	CLIP-seq
MIRT2511828	hsa-miR-4649-3p	CLIP-seq
MIRT2511829	hsa-miR-4653-5p	CLIP-seq
MIRT2511830	hsa-miR-4662a-5p	CLIP-seq
MIRT2511831	hsa-miR-4662b	CLIP-seq
MIRT2511832	hsa-miR-4670-3p	CLIP-seq
MIRT2511833	hsa-miR-4685-3p	CLIP-seq
MIRT2511834	hsa-miR-4693-3p	CLIP-seq
MIRT2511835	hsa-miR-4695-5p	CLIP-seq
MIRT1972597	hsa-miR-4700-3p	CLIP-seq
MIRT2511836	hsa-miR-4714-5p	CLIP-seq
MIRT2511837	hsa-miR-4715-3p	CLIP-seq
MIRT919542	hsa-miR-4725-3p	CLIP-seq
MIRT2511838	hsa-miR-4738-3p	CLIP-seq
MIRT2511839	hsa-miR-4755-5p	CLIP-seq
MIRT919543	hsa-miR-4757-5p	CLIP-seq
MIRT2511840	hsa-miR-4776-5p	CLIP-seq
MIRT2511841	hsa-miR-4777-5p	CLIP-seq
MIRT2511842	hsa-miR-4779	CLIP-seq
MIRT919544	hsa-miR-4789-3p	CLIP-seq
MIRT919545	hsa-miR-492	CLIP-seq
MIRT2511843	hsa-miR-508-5p	CLIP-seq
MIRT2511844	hsa-miR-512-3p	CLIP-seq
MIRT2511845	hsa-miR-520f	CLIP-seq
MIRT2511846	hsa-miR-548aa	CLIP-seq
MIRT2511847	hsa-miR-548ac	CLIP-seq
MIRT2511848	hsa-miR-548d-3p	CLIP-seq
MIRT1972598	hsa-miR-548v	CLIP-seq
MIRT2511849	hsa-miR-548z	CLIP-seq
MIRT2511850	hsa-miR-550b	CLIP-seq
MIRT2511851	hsa-miR-576-3p	CLIP-seq
MIRT2678913	hsa-miR-596	CLIP-seq
MIRT2511852	hsa-miR-636	CLIP-seq
MIRT2511853	hsa-miR-642a	CLIP-seq
MIRT2511854	hsa-miR-651	CLIP-seq
MIRT2511855	hsa-miR-657	CLIP-seq
MIRT2511856	hsa-miR-660	CLIP-seq
MIRT2678914	hsa-miR-661	CLIP-seq
MIRT2511857	hsa-miR-7	CLIP-seq
MIRT2511858	hsa-miR-92a	CLIP-seq
MIRT2511859	hsa-miR-92b	CLIP-seq
MIRT2511860	hsa-miR-936	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IBA
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IEA
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0031092	Component	Platelet alpha granule membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071949	Function	FAD binding	IBA

MIM	HGNC	e!Ensembl
608341	13397	ENSG00000159348

Q9UHQ9

Protein name

NADH-cytochrome b5 reductase 1 (b5R.1) (EC 1.6.2.2) (Humb5R2) (NAD(P)H:quinone oxidoreductase type 3 polypeptide A2)

Protein function

NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00970	FAD_binding_6	48 → 155	Oxidoreductase FAD-binding domain	Domain
PF00175	NAD_binding_1	181 → 289	Oxidoreductase NAD-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10611283}.

Sequence

MGIQTSPVLLASLGVGLVTLLGLAVGSYLVRRSRRPQVTLLDPNEKYLLRLLDKTTVSHN
TKRFRFALPTAHHTLGLPVGKHIYLSTRIDGSLVIRPYTPVTSDEDQGYVDLVIKVYLKG
VHPKFPEGGKMSQYLDSLKVGDVVEFRGPSGLLTYTGKGHFNIQPNKKSPPEPRVAKKLG
MIAGGTGITPMLQLIRAILKVPEDPTQCFLLFANQTEKDIILREDLEELQARYPNRFKLW
FTLDHPPKDWAYSKGFVTADMIREHLPAPGDDVLVLLCGPPPMVQLACHPNLDKLGYSQK
MRFTY

Sequence length

305

Interactions

View interactions

	KEGG		Reactome
	Biosynthesis of various nucleotide sugars		Platelet degranulation Erythrocytes take up carbon dioxide and release oxygen

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	27120783	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27120783	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	37555827	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	21397927	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Associate	39213249	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	37752199	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYB5R1 (cytochrome b5 reductase 1)