Q9UHQ9 (NB5R1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH-cytochrome b5 reductase 1
Short name=b5R.1
EC=1.6.2.2

Alternative name(s):
Humb5R2
NAD(P)H:quinone oxidoreductase type 3 polypeptide A2

Gene names

Name:	CYB5R1
Synonyms:	NQO3A2
ORF Names:	UNQ3049/PRO9865

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	305 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction By similarity.
Catalytic activity	NADH + 2 ferricytochrome b5 = NAD+ + H+ + 2 ferrocytochrome b5.
Cofactor	FAD By similarity.
Subcellular location	Membrane; Single-pass membrane protein Potential.
Tissue specificity	Widely expressed. Ref.1
Sequence similarities	Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Contains 1 FAD-binding FR-type domain.
Sequence caution	The sequence AAC72953.1 differs from that shown. Reason: Erroneous initiation. The sequence AAI27946.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Lipid biosynthesis Lipid metabolism Steroid biosynthesis Steroid metabolism Sterol biosynthesis Sterol metabolism
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	FAD Flavoprotein NAD
Molecular function	Oxidoreductase
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	sterol biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrion Inferred from electronic annotation. Source: Compara
Molecular_function	cytochrome-b5 reductase activity, acting on NAD(P)H Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 305	305	NADH-cytochrome b5 reductase 1		PRO_0000287545
Regions
	Transmembrane	8 – 28	21	Helical; Potential
	Domain	44 – 156	113	FAD-binding FR-type
	Nucleotide binding	136 – 166	31	FAD By similarity
	Nucleotide binding	175 – 210	36	FAD By similarity
Natural variations
	Natural variant	44	1	N → S. Corresponds to variant rs2232842 [ dbSNP | Ensembl ].		VAR_032320
Experimental info
	Sequence conflict	82	1	H → R in BAD97136. Ref.7
	Sequence conflict	92	1	S → N in AAF06147. Ref.1
	Sequence conflict	142	1	D → H in AAF06147. Ref.1
	Sequence conflict	212	1	F → S in BAC11115. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9UHQ9 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: DC9DAFEC619F9317	FASTA	305	34,095
	10 20 30 40 50 60 MGIQTSPVLL ASLGVGLVTL LGLAVGSYLV RRSRRPQVTL LDPNEKYLLR LLDKTTVSHN 70 80 90 100 110 120 TKRFRFALPT AHHTLGLPVG KHIYLSTRID GSLVIRPYTP VTSDEDQGYV DLVIKVYLKG 130 140 150 160 170 180 VHPKFPEGGK MSQYLDSLKV GDVVEFRGPS GLLTYTGKGH FNIQPNKKSP PEPRVAKKLG 190 200 210 220 230 240 MIAGGTGITP MLQLIRAILK VPEDPTQCFL LFANQTEKDI ILREDLEELQ ARYPNRFKLW 250 260 270 280 290 300 FTLDHPPKDW AYSKGFVTAD MIREHLPAPG DDVLVLLCGP PPMVQLACHP NLDKLGYSQK MRFTY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells." Zhu H., Qiu H., Yoon H.-W., Huang S., Bunn H.F. Proc. Natl. Acad. Sci. U.S.A. 96:14742-14747(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"Cloning of a new human cDNA homology to human NADH-cytochrome-b5 reductase mRNA." Xu Z.G., Yu L., Yue P., Tu Q., Zheng L.H., Zhao S.Y. Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[5]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"A novel gene expressed in human adrenal gland." Peng Y., Gu Y., Li Y., Fu S., Gu J., Zhang L., Jiang C., Yu Y., Fu G., Wang Y., Chen Z., Han Z. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Adrenal gland.
[7]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon.
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[10]	"Full-insert sequence of mapped XREF EST." Barrow I.K.-P., Boguski M.S., Touchman J., Spencer F. Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 172-305.
[11]	Bienvenut W.V., Claeys D. Submitted (NOV-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 66-81 AND 140-158, MASS SPECTROMETRY. Tissue: Platelet.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF169481 mRNA. Translation: AAF06147.1. AF087912 mRNA. Translation: AAP97209.1. AF093822 mRNA. Translation: AAP97218.1. AY359026 mRNA. Translation: AAQ89385.1. AK074654 mRNA. Translation: BAC11115.1. AF125533 mRNA. Translation: AAF17227.1. AK223416 mRNA. Translation: BAD97136.1. AK313333 mRNA. Translation: BAG36137.1. CH471067 Genomic DNA. Translation: EAW91452.1. BC018732 mRNA. Translation: AAH18732.1. BC127945 mRNA. Translation: AAI27946.1. Different initiation. AF091084 mRNA. Translation: AAC72953.1. Different initiation.
IPI	IPI00470674.
RefSeq	NP_057327.2. NM_016243.2.
UniGene	Hs.334832.
3D structure databases
ProteinModelPortal	Q9UHQ9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UHQ9. 2 interactions.
MINT	MINT-2873535.
STRING	9606.ENSP00000356218.
PTM databases
PhosphoSite	Q9UHQ9.
Polymorphism databases
DMDM	74761957.
Proteomic databases
PaxDb	Q9UHQ9.
PeptideAtlas	Q9UHQ9.
PRIDE	Q9UHQ9.
Protocols and materials databases
DNASU	51706.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367249; ENSP00000356218; ENSG00000159348.
GeneID	51706.
KEGG	hsa:51706.
UCSC	uc001gyt.2. human.
Organism-specific databases
CTD	51706.
GeneCards	GC01M202930.
HGNC	HGNC:13397. CYB5R1.
HPA	HPA010641. HPA014147.
MIM	608341. gene.
neXtProt	NX_Q9UHQ9.
PharmGKB	PA134979668.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0543.
HOVERGEN	HBG052580.
InParanoid	Q9UHQ9.
KO	K00326.
OMA	GKXITPM.
OrthoDB	EOG418BNW.
PhylomeDB	Q9UHQ9.
Gene expression databases
Bgee	Q9UHQ9.
CleanEx	HS_CYB5R1.
Genevestigator	Q9UHQ9.
Family and domain databases
InterPro	IPR017927. Fd_Rdtase_FAD-bd. IPR001709. Flavoprot_Pyr_Nucl_cyt_Rdtase. IPR001834. NADH-Cyt_B5_reductase. IPR008333. OxRdtase_FAD-bd_dom. IPR001433. OxRdtase_FAD/NAD-bd. IPR017938. Riboflavin_synthase-like_b-brl. [Graphical view]
Pfam	PF00970. FAD_binding_6. 1 hit. PF00175. NAD_binding_1. 1 hit. [Graphical view]
PRINTS	PR00406. CYTB5RDTASE. PR00371. FPNCR.
SUPFAM	SSF63380. Riboflavin_synthase_like_b-brl. 1 hit.
PROSITE	PS51384. FAD_FR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CYB5R1. human.
GenomeRNAi	51706.
NextBio	55748.
SOURCE	Search...

Entry information

Entry name

NB5R1_HUMAN

Accession

Primary (citable) accession number: Q9UHQ9
Secondary accession number(s): A0PK21 , B2R8E0, O95329, Q53F73, Q8NCL5, Q9UHJ1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	May 1, 2000
Last modified:	May 29, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.