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Q6BCY4

- NB5R2_HUMAN

UniProt

Q6BCY4 - NB5R2_HUMAN

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
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (13 Sep 2004)
      Previous versions | rss
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    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).By similarity1 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 – 13731FADBy similarityAdd
    BLAST
    Nucleotide bindingi146 – 18136FADBy similarityAdd
    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

    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

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672060.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 276276NADH-cytochrome b5 reductase 2PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini15 – 127113FAD-binding FR-typePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301G → R in AAF04811. (PubMed:10611283)Curated
    Sequence conflicti253 – 2531P → T in AAF04811. (PubMed:10611283)Curated

    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. 1 PublicationVSP_025559Add
    BLAST

    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

    EnsembliENST00000299498; 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 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

    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: October 1, 2014
    This is version 85 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