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Q9UHQ9

- NB5R1_HUMAN

UniProt

Q9UHQ9 - NB5R1_HUMAN

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Protein

NADH-cytochrome b5 reductase 1

Gene

CYB5R1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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 activityi

NADH + 2 ferricytochrome b5 = NAD+ + H+ + 2 ferrocytochrome b5.

Cofactori

FADBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi136 – 16631FADBy similarityAdd
BLAST
Nucleotide bindingi175 – 21036FADBy similarityAdd
BLAST

GO - Molecular functioni

  1. cytochrome-b5 reductase activity, acting on NAD(P)H Source: UniProtKB-EC

GO - Biological processi

  1. sterol biosynthetic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

FAD, Flavoprotein, NAD

Names & Taxonomyi

Protein namesi
Recommended name:
NADH-cytochrome b5 reductase 1 (EC:1.6.2.2)
Short name:
b5R.1
Alternative name(s):
Humb5R2
NAD(P)H:quinone oxidoreductase type 3 polypeptide A2
Gene namesi
Name:CYB5R1
Synonyms:NQO3A2
ORF Names:UNQ3049/PRO9865
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:13397. CYB5R1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProtKB
  4. mitochondrion Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134979668.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 305305NADH-cytochrome b5 reductase 1PRO_0000287545Add
BLAST

Proteomic databases

MaxQBiQ9UHQ9.
PaxDbiQ9UHQ9.
PeptideAtlasiQ9UHQ9.
PRIDEiQ9UHQ9.

PTM databases

PhosphoSiteiQ9UHQ9.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ9UHQ9.
CleanExiHS_CYB5R1.
GenevestigatoriQ9UHQ9.

Organism-specific databases

HPAiHPA010641.
HPA014147.

Interactioni

Protein-protein interaction databases

BioGridi119690. 9 interactions.
IntActiQ9UHQ9. 2 interactions.
MINTiMINT-2873535.
STRINGi9606.ENSP00000356218.

Structurei

3D structure databases

ProteinModelPortaliQ9UHQ9.
SMRiQ9UHQ9. Positions 36-305.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini44 – 156113FAD-binding FR-typePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 FAD-binding FR-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0543.
GeneTreeiENSGT00390000008881.
HOVERGENiHBG052580.
InParanoidiQ9UHQ9.
KOiK00326.
OMAiMKVGDYL.
OrthoDBiEOG7CZK69.
PhylomeDBiQ9UHQ9.
TreeFamiTF314333.

Family and domain databases

InterProiIPR017927. 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]
PfamiPF00970. FAD_binding_6. 1 hit.
PF00175. NAD_binding_1. 1 hit.
[Graphical view]
PRINTSiPR00406. CYTB5RDTASE.
PR00371. FPNCR.
SUPFAMiSSF63380. SSF63380. 1 hit.
PROSITEiPS51384. FAD_FR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UHQ9-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGIQTSPVLL ASLGVGLVTL LGLAVGSYLV RRSRRPQVTL LDPNEKYLLR
60 70 80 90 100
LLDKTTVSHN TKRFRFALPT AHHTLGLPVG KHIYLSTRID GSLVIRPYTP
110 120 130 140 150
VTSDEDQGYV DLVIKVYLKG VHPKFPEGGK MSQYLDSLKV GDVVEFRGPS
160 170 180 190 200
GLLTYTGKGH FNIQPNKKSP PEPRVAKKLG MIAGGTGITP MLQLIRAILK
210 220 230 240 250
VPEDPTQCFL LFANQTEKDI ILREDLEELQ ARYPNRFKLW FTLDHPPKDW
260 270 280 290 300
AYSKGFVTAD MIREHLPAPG DDVLVLLCGP PPMVQLACHP NLDKLGYSQK

MRFTY
Length:305
Mass (Da):34,095
Last modified:May 1, 2000 - v1
Checksum:iDC9DAFEC619F9317
GO

Sequence cautioni

The sequence AAC72953.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAI27946.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti82 – 821H → R in BAD97136. 1 PublicationCurated
Sequence conflicti92 – 921S → N in AAF06147. (PubMed:10611283)Curated
Sequence conflicti142 – 1421D → H in AAF06147. (PubMed:10611283)Curated
Sequence conflicti212 – 2121F → S in BAC11115. (PubMed:16303743)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441N → S.
Corresponds to variant rs2232842 [ dbSNP | Ensembl ].
VAR_032320

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1431.1.
RefSeqiNP_057327.2. NM_016243.2.
UniGeneiHs.334832.

Genome annotation databases

EnsembliENST00000367249; ENSP00000356218; ENSG00000159348.
GeneIDi51706.
KEGGihsa:51706.
UCSCiuc001gyt.2. human.

Polymorphism databases

DMDMi74761957.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS1431.1.
RefSeqi NP_057327.2. NM_016243.2.
UniGenei Hs.334832.

3D structure databases

ProteinModelPortali Q9UHQ9.
SMRi Q9UHQ9. Positions 36-305.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119690. 9 interactions.
IntActi Q9UHQ9. 2 interactions.
MINTi MINT-2873535.
STRINGi 9606.ENSP00000356218.

Chemistry

DrugBanki DB03147. Flavin adenine dinucleotide.

PTM databases

PhosphoSitei Q9UHQ9.

Polymorphism databases

DMDMi 74761957.

Proteomic databases

MaxQBi Q9UHQ9.
PaxDbi Q9UHQ9.
PeptideAtlasi Q9UHQ9.
PRIDEi Q9UHQ9.

Protocols and materials databases

DNASUi 51706.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367249 ; ENSP00000356218 ; ENSG00000159348 .
GeneIDi 51706.
KEGGi hsa:51706.
UCSCi uc001gyt.2. human.

Organism-specific databases

CTDi 51706.
GeneCardsi GC01M202930.
HGNCi HGNC:13397. CYB5R1.
HPAi HPA010641.
HPA014147.
MIMi 608341. gene.
neXtProti NX_Q9UHQ9.
PharmGKBi PA134979668.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0543.
GeneTreei ENSGT00390000008881.
HOVERGENi HBG052580.
InParanoidi Q9UHQ9.
KOi K00326.
OMAi MKVGDYL.
OrthoDBi EOG7CZK69.
PhylomeDBi Q9UHQ9.
TreeFami TF314333.

Miscellaneous databases

ChiTaRSi CYB5R1. human.
GeneWikii CYB5R1.
GenomeRNAii 51706.
NextBioi 55748.
PROi Q9UHQ9.
SOURCEi Search...

Gene expression databases

Bgeei Q9UHQ9.
CleanExi HS_CYB5R1.
Genevestigatori Q9UHQ9.

Family and domain databases

InterProi 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 ]
Pfami PF00970. FAD_binding_6. 1 hit.
PF00175. NAD_binding_1. 1 hit.
[Graphical view ]
PRINTSi PR00406. CYTB5RDTASE.
PR00371. FPNCR.
SUPFAMi SSF63380. SSF63380. 1 hit.
PROSITEi PS51384. FAD_FR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Platelet.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiNB5R1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHQ9
Secondary accession number(s): A0PK21
, B2R8E0, O95329, Q53F73, Q8NCL5, Q9UHJ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 1, 2000
Last modified: November 26, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3