Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q6BCY4 (NB5R2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NADH-cytochrome b5 reductase 2

Short name=b5R.2
EC=1.6.2.2
Gene names
Name:CYB5R2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length276 AA.
Sequence statusComplete.
Protein existenceEvidence 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. 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). Ref.2

Catalytic activity

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

Cofactor

FAD By similarity.

Tissue specificity

Restricted expression. Ref.1

Sequence similarities

Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.

Contains 1 FAD-binding FR-type domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6BCY4-1)

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.
Isoform 2 (identifier: Q6BCY4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     221-276: WKYSSGFVTADMIKEHLPPPAKSTLILVCGPPPLIQTAAHPNLEKLGYTQDMIFTY → PWSAEGATLLSNSAQFH
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 276276NADH-cytochrome b5 reductase 2
PRO_0000287548

Regions

Domain15 – 127113FAD-binding FR-type
Nucleotide binding107 – 13731FAD By similarity
Nucleotide binding146 – 18136FAD By similarity

Natural variations

Alternative sequence221 – 27656WKYSS…MIFTY → PWSAEGATLLSNSAQFH in isoform 2.
VSP_025559
Natural variant151E → A.
Corresponds to variant rs11041525 [ dbSNP | Ensembl ].
VAR_032321
Natural variant2091N → D. Ref.1 Ref.3 Ref.4
Corresponds to variant rs12801394 [ dbSNP | Ensembl ].
VAR_032322

Experimental info

Sequence conflict1301G → R in AAF04811. Ref.1
Sequence conflict2531P → T in AAF04811. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 13, 2004. Version 1.
Checksum: A475039D1E56ABDA

FASTA27631,458
        10         20         30         40         50         60 
MNSRRREPIT LQDPEAKYPL PLIEKEKISH NTRRFRFGLP SPDHVLGLPV GNYVQLLAKI 

        70         80         90        100        110        120 
DNELVVRAYT PVSSDDDRGF VDLIIKIYFK NVHPQYPEGG KMTQYLENMK IGETIFFRGP 

       130        140        150        160        170        180 
RGRLFYHGPG NLGIRPDQTS EPKKTLADHL GMIAGGTGIT PMLQLIRHIT KDPSDRTRMS 

       190        200        210        220        230        240 
LIFANQTEED ILVRKELEEI ARTHPDQFNL WYTLDRPPIG WKYSSGFVTA DMIKEHLPPP 

       250        260        270 
AKSTLILVCG PPPLIQTAAH PNLEKLGYTQ DMIFTY 

« Hide

Isoform 2 [UniParc].

Checksum: 54044C015E5D4CA0
Show »

FASTA23727,043

References

« Hide '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] (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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-276 (ISOFORM 1), VARIANT ASP-209.
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF169802 mRNA. Translation: AAF04811.1.
AY665398 mRNA. Translation: AAT75296.1.
BC001346 mRNA. Translation: AAH01346.1.
AL133582 mRNA. Translation: CAB63726.1.
CCDSCCDS7780.1. [Q6BCY4-1]
PIRT43491.
RefSeqNP_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]
UniGeneHs.414362.

3D structure databases

ProteinModelPortalQ6BCY4.
SMRQ6BCY4. Positions 9-276.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119684. 3 interactions.
IntActQ6BCY4. 3 interactions.
MINTMINT-1447606.
STRING9606.ENSP00000299498.

PTM databases

PhosphoSiteQ6BCY4.

Polymorphism databases

DMDM74709211.

2D gel databases

REPRODUCTION-2DPAGEIPI00332396.

Proteomic databases

MaxQBQ6BCY4.
PaxDbQ6BCY4.
PRIDEQ6BCY4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299497; ENSP00000299497; ENSG00000166394. [Q6BCY4-2]
ENST00000299498; ENSP00000299498; ENSG00000166394. [Q6BCY4-1]
ENST00000524790; ENSP00000435916; ENSG00000166394. [Q6BCY4-2]
ENST00000533558; ENSP00000437041; ENSG00000166394. [Q6BCY4-1]
GeneID51700.
KEGGhsa:51700.
UCSCuc001mfm.3. human. [Q6BCY4-1]

Organism-specific databases

CTD51700.
GeneCardsGC11M007642.
HGNCHGNC:24376. CYB5R2.
HPAHPA038962.
MIM608342. gene.
neXtProtNX_Q6BCY4.
PharmGKBPA142672060.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0543.
HOGENOMHOG000175005.
HOVERGENHBG052580.
InParanoidQ6BCY4.
KOK00326.
OMAPPTDSNI.
OrthoDBEOG7CZK69.
PhylomeDBQ6BCY4.
TreeFamTF314333.

Gene expression databases

ArrayExpressQ6BCY4.
BgeeQ6BCY4.
CleanExHS_CYB5R2.
GenevestigatorQ6BCY4.

Family and domain databases

InterProIPR017927. 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]
PfamPF00970. FAD_binding_6. 1 hit.
PF00175. NAD_binding_1. 1 hit.
[Graphical view]
PRINTSPR00406. CYTB5RDTASE.
PR00371. FPNCR.
SUPFAMSSF63380. SSF63380. 1 hit.
PROSITEPS51384. FAD_FR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCYB5R2.
GenomeRNAi51700.
NextBio55720.
PROQ6BCY4.
SOURCESearch...

Entry information

Entry nameNB5R2_HUMAN
AccessionPrimary (citable) accession number: Q6BCY4
Secondary accession number(s): Q9BVA3, Q9UF68, Q9UHJ0
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM