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Q6BCY4

- NB5R2_HUMAN

UniProt

Q6BCY4 - NB5R2_HUMAN

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Protein
NADH-cytochrome b5 reductase 2
Gene
CYB5R2
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. Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).1 Publication

Catalytic activityi

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

Cofactori

FAD By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi107 – 13731FAD By similarity
Add
BLAST
Nucleotide bindingi146 – 18136FAD By similarity
Add
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. oxidation-reduction process Source: UniProtKB
  2. 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 2 (EC:1.6.2.2)
Short name:
b5R.2
Gene namesi
Name:CYB5R2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:24376. CYB5R2.

Subcellular locationi

GO - Cellular componenti

  1. membrane Source: UniProtKB
  2. mitochondrion Source: Ensembl
  3. nucleus Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672060.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 276276NADH-cytochrome b5 reductase 2
PRO_0000287548Add
BLAST

Proteomic databases

MaxQBiQ6BCY4.
PaxDbiQ6BCY4.
PRIDEiQ6BCY4.

2D gel databases

REPRODUCTION-2DPAGEIPI00332396.

PTM databases

PhosphoSiteiQ6BCY4.

Expressioni

Tissue specificityi

Restricted expression.1 Publication

Gene expression databases

ArrayExpressiQ6BCY4.
BgeeiQ6BCY4.
CleanExiHS_CYB5R2.
GenevestigatoriQ6BCY4.

Organism-specific databases

HPAiHPA038962.

Interactioni

Protein-protein interaction databases

BioGridi119684. 3 interactions.
IntActiQ6BCY4. 3 interactions.
MINTiMINT-1447606.
STRINGi9606.ENSP00000299498.

Structurei

3D structure databases

ProteinModelPortaliQ6BCY4.
SMRiQ6BCY4. Positions 9-276.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini15 – 127113FAD-binding FR-type
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0543.
HOGENOMiHOG000175005.
HOVERGENiHBG052580.
InParanoidiQ6BCY4.
KOiK00326.
OMAiPPTDSNI.
OrthoDBiEOG7CZK69.
PhylomeDBiQ6BCY4.
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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6BCY4-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MNSRRREPIT LQDPEAKYPL PLIEKEKISH NTRRFRFGLP SPDHVLGLPV    50
GNYVQLLAKI DNELVVRAYT PVSSDDDRGF VDLIIKIYFK NVHPQYPEGG 100
KMTQYLENMK IGETIFFRGP RGRLFYHGPG NLGIRPDQTS EPKKTLADHL 150
GMIAGGTGIT PMLQLIRHIT KDPSDRTRMS LIFANQTEED ILVRKELEEI 200
ARTHPDQFNL WYTLDRPPIG WKYSSGFVTA DMIKEHLPPP AKSTLILVCG 250
PPPLIQTAAH PNLEKLGYTQ DMIFTY 276
Length:276
Mass (Da):31,458
Last modified:September 13, 2004 - v1
Checksum:iA475039D1E56ABDA
GO
Isoform 2 (identifier: Q6BCY4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-276: WKYSSGFVTADMIKEHLPPPAKSTLILVCGPPPLIQTAAHPNLEKLGYTQDMIFTY → PWSAEGATLLSNSAQFH

Note: No experimental confirmation available.

Show »
Length:237
Mass (Da):27,043
Checksum:i54044C015E5D4CA0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151E → A.
Corresponds to variant rs11041525 [ dbSNP | Ensembl ].
VAR_032321
Natural varianti209 – 2091N → D.3 Publications
Corresponds to variant rs12801394 [ dbSNP | Ensembl ].
VAR_032322

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei221 – 27656WKYSS…MIFTY → PWSAEGATLLSNSAQFH in isoform 2.
VSP_025559Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti130 – 1301G → R in AAF04811. 1 Publication
Sequence conflicti253 – 2531P → T in AAF04811. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF169802 mRNA. Translation: AAF04811.1.
AY665398 mRNA. Translation: AAT75296.1.
BC001346 mRNA. Translation: AAH01346.1.
AL133582 mRNA. Translation: CAB63726.1.
CCDSiCCDS7780.1. [Q6BCY4-1]
PIRiT43491.
RefSeqiNP_057313.2. NM_016229.3. [Q6BCY4-1]
XP_005253031.1. XM_005252974.2. [Q6BCY4-1]
XP_005253032.1. XM_005252975.2. [Q6BCY4-1]
XP_006718313.1. XM_006718250.1. [Q6BCY4-1]
XP_006718314.1. XM_006718251.1. [Q6BCY4-1]
XP_006718315.1. XM_006718252.1. [Q6BCY4-1]
UniGeneiHs.414362.

Genome annotation databases

EnsembliENST00000299497; ENSP00000299497; ENSG00000166394. [Q6BCY4-2]
ENST00000299498; ENSP00000299498; ENSG00000166394. [Q6BCY4-1]
ENST00000524790; ENSP00000435916; ENSG00000166394. [Q6BCY4-2]
ENST00000533558; ENSP00000437041; ENSG00000166394. [Q6BCY4-1]
GeneIDi51700.
KEGGihsa:51700.
UCSCiuc001mfm.3. human. [Q6BCY4-1]

Polymorphism databases

DMDMi74709211.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF169802 mRNA. Translation: AAF04811.1 .
AY665398 mRNA. Translation: AAT75296.1 .
BC001346 mRNA. Translation: AAH01346.1 .
AL133582 mRNA. Translation: CAB63726.1 .
CCDSi CCDS7780.1. [Q6BCY4-1 ]
PIRi T43491.
RefSeqi NP_057313.2. NM_016229.3. [Q6BCY4-1 ]
XP_005253031.1. XM_005252974.2. [Q6BCY4-1 ]
XP_005253032.1. XM_005252975.2. [Q6BCY4-1 ]
XP_006718313.1. XM_006718250.1. [Q6BCY4-1 ]
XP_006718314.1. XM_006718251.1. [Q6BCY4-1 ]
XP_006718315.1. XM_006718252.1. [Q6BCY4-1 ]
UniGenei Hs.414362.

3D structure databases

ProteinModelPortali Q6BCY4.
SMRi Q6BCY4. Positions 9-276.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119684. 3 interactions.
IntActi Q6BCY4. 3 interactions.
MINTi MINT-1447606.
STRINGi 9606.ENSP00000299498.

PTM databases

PhosphoSitei Q6BCY4.

Polymorphism databases

DMDMi 74709211.

2D gel databases

REPRODUCTION-2DPAGE IPI00332396.

Proteomic databases

MaxQBi Q6BCY4.
PaxDbi Q6BCY4.
PRIDEi Q6BCY4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299497 ; ENSP00000299497 ; ENSG00000166394 . [Q6BCY4-2 ]
ENST00000299498 ; ENSP00000299498 ; ENSG00000166394 . [Q6BCY4-1 ]
ENST00000524790 ; ENSP00000435916 ; ENSG00000166394 . [Q6BCY4-2 ]
ENST00000533558 ; ENSP00000437041 ; ENSG00000166394 . [Q6BCY4-1 ]
GeneIDi 51700.
KEGGi hsa:51700.
UCSCi uc001mfm.3. human. [Q6BCY4-1 ]

Organism-specific databases

CTDi 51700.
GeneCardsi GC11M007642.
HGNCi HGNC:24376. CYB5R2.
HPAi HPA038962.
MIMi 608342. gene.
neXtProti NX_Q6BCY4.
PharmGKBi PA142672060.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0543.
HOGENOMi HOG000175005.
HOVERGENi HBG052580.
InParanoidi Q6BCY4.
KOi K00326.
OMAi PPTDSNI.
OrthoDBi EOG7CZK69.
PhylomeDBi Q6BCY4.
TreeFami TF314333.

Miscellaneous databases

GeneWikii CYB5R2.
GenomeRNAii 51700.
NextBioi 55720.
PROi Q6BCY4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q6BCY4.
Bgeei Q6BCY4.
CleanExi HS_CYB5R2.
Genevestigatori Q6BCY4.

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] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ASP-209.
  2. "Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa."
    Baker M.A., Krutskikh A., Curry B.J., Hetherington L., Aitken R.J.
    Biol. Reprod. 73:334-342(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION.
  3. "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] (ISOFORM 2), VARIANT ASP-209.
    Tissue: Placenta.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-276 (ISOFORM 1), VARIANT ASP-209.
    Tissue: Testis.

Entry informationi

Entry nameiNB5R2_HUMAN
AccessioniPrimary (citable) accession number: Q6BCY4
Secondary accession number(s): Q9BVA3, Q9UF68, Q9UHJ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: September 13, 2004
Last modified: July 9, 2014
This is version 84 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, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

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