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Q9HAY6

- BCDO1_HUMAN

UniProt

Q9HAY6 - BCDO1_HUMAN

Protein

Beta,beta-carotene 15,15'-monooxygenase

Gene

BCMO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and oxidative cleavage of the diol formed.

    Catalytic activityi

    Beta-carotene + O2 = 2 all-trans-retinal.

    Cofactori

    Binds 1 Fe2+ ion per subunit.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi172 – 1721Iron; catalyticBy similarity
    Metal bindingi237 – 2371Iron; catalyticBy similarity
    Metal bindingi308 – 3081Iron; catalyticBy similarity
    Metal bindingi514 – 5141Iron; catalyticBy similarity

    GO - Molecular functioni

    1. beta-carotene 15,15'-monooxygenase activity Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. monooxygenase activity Source: UniProtKB-KW

    GO - Biological processi

    1. phototransduction, visible light Source: Reactome
    2. retinal metabolic process Source: BHF-UCL
    3. retinoid metabolic process Source: UniProtKB
    4. retinol metabolic process Source: UniProtKB-UniPathway
    5. vitamin A biosynthetic process Source: BHF-UCL

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Ligandi

    Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS06050-MONOMER.
    ReactomeiREACT_24968. Retinoid metabolism and transport.
    SABIO-RKQ9HAY6.
    UniPathwayiUPA00912.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta,beta-carotene 15,15'-monooxygenase (EC:1.14.99.36)
    Alternative name(s):
    Beta-carotene dioxygenase 1
    Gene namesi
    Name:BCMO1
    Synonyms:BCDO, BCDO1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:13815. BCMO1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [MIM:115300]: A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti170 – 1701T → M in ADHVAD; has about 90% decreased enzyme activity compared to wild-type; no evidence for a dominant-negative effect; consistent with a loss-of-function mutation resulting in haploinsufficiency. 1 Publication
    Corresponds to variant rs119478057 [ dbSNP | Ensembl ].
    VAR_058112

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi115300. phenotype.
    Orphaneti199285. Hereditary hypercarotenemia and vitamin A deficiency.
    PharmGKBiPA37812.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 547547Beta,beta-carotene 15,15'-monooxygenasePRO_0000143933Add
    BLAST

    Proteomic databases

    PaxDbiQ9HAY6.
    PRIDEiQ9HAY6.

    PTM databases

    PhosphoSiteiQ9HAY6.

    Expressioni

    Tissue specificityi

    Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon.1 Publication

    Gene expression databases

    ArrayExpressiQ9HAY6.
    BgeeiQ9HAY6.
    CleanExiHS_BCMO1.
    GenevestigatoriQ9HAY6.

    Organism-specific databases

    HPAiHPA043811.

    Interactioni

    Protein-protein interaction databases

    IntActiQ9HAY6. 1 interaction.
    STRINGi9606.ENSP00000258168.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAY6.
    SMRiQ9HAY6. Positions 10-517.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the carotenoid oxygenase family.Curated

    Phylogenomic databases

    eggNOGiCOG3670.
    HOGENOMiHOG000232156.
    HOVERGENiHBG050679.
    InParanoidiQ9HAY6.
    KOiK00515.
    OMAiITENYIV.
    OrthoDBiEOG7353WB.
    PhylomeDBiQ9HAY6.
    TreeFamiTF314019.

    Family and domain databases

    InterProiIPR004294. Carotenoid_Oase.
    [Graphical view]
    PANTHERiPTHR10543. PTHR10543. 1 hit.
    PfamiPF03055. RPE65. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9HAY6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDIIFGRNRK EQLEPVRAKV TGKIPAWLQG TLLRNGPGMH TVGESRYNHW    50
    FDGLALLHSF TIRDGEVYYR SKYLRSDTYN TNIEANRIVV SEFGTMAYPD 100
    PCKNIFSKAF SYLSHTIPDF TDNCLINIMK CGEDFYATSE TNYIRKINPQ 150
    TLETLEKVDY RKYVAVNLAT SHPHYDEAGN VLNMGTSIVE KGKTKYVIFK 200
    IPATVPEGKK QGKSPWKHTE VFCSIPSRSL LSPSYYHSFG VTENYVIFLE 250
    QPFRLDILKM ATAYIRRMSW ASCLAFHREE KTYIHIIDQR TRQPVQTKFY 300
    TDAMVVFHHV NAYEEDGCIV FDVIAYEDNS LYQLFYLANL NQDFKENSRL 350
    TSVPTLRRFA VPLHVDKNAE VGTNLIKVAS TTATALKEED GQVYCQPEFL 400
    YEGLELPRVN YAHNGKQYRY VFATGVQWSP IPTKIIKYDI LTKSSLKWRE 450
    DDCWPAEPLF VPAPGAKDED DGVILSAIVS TDPQKLPFLL ILDAKSFTEL 500
    ARASVDVDMH MDLHGLFITD MDWDTKKQAA SEEQRDRASD CHGAPLT 547
    Length:547
    Mass (Da):62,637
    Last modified:March 1, 2001 - v1
    Checksum:iF94BC8B01D56F9CB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti302 – 3021D → G in BAA91776. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti170 – 1701T → M in ADHVAD; has about 90% decreased enzyme activity compared to wild-type; no evidence for a dominant-negative effect; consistent with a loss-of-function mutation resulting in haploinsufficiency. 1 Publication
    Corresponds to variant rs119478057 [ dbSNP | Ensembl ].
    VAR_058112
    Natural varianti267 – 2671R → S.2 Publications
    Corresponds to variant rs12934922 [ dbSNP | Ensembl ].
    VAR_048406
    Natural varianti379 – 3791A → V.
    Corresponds to variant rs7501331 [ dbSNP | Ensembl ].
    VAR_048407

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF294900 mRNA. Translation: AAG15380.1.
    AK001592 mRNA. Translation: BAA91776.1.
    CH471114 Genomic DNA. Translation: EAW95537.1.
    BC126210 mRNA. Translation: AAI26211.1.
    BC126212 mRNA. Translation: AAI26213.1.
    CCDSiCCDS10934.1.
    RefSeqiNP_059125.2. NM_017429.2.
    UniGeneiHs.212172.

    Genome annotation databases

    EnsembliENST00000258168; ENSP00000258168; ENSG00000135697.
    GeneIDi53630.
    KEGGihsa:53630.
    UCSCiuc002fgn.1. human.

    Polymorphism databases

    DMDMi41688803.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF294900 mRNA. Translation: AAG15380.1 .
    AK001592 mRNA. Translation: BAA91776.1 .
    CH471114 Genomic DNA. Translation: EAW95537.1 .
    BC126210 mRNA. Translation: AAI26211.1 .
    BC126212 mRNA. Translation: AAI26213.1 .
    CCDSi CCDS10934.1.
    RefSeqi NP_059125.2. NM_017429.2.
    UniGenei Hs.212172.

    3D structure databases

    ProteinModelPortali Q9HAY6.
    SMRi Q9HAY6. Positions 10-517.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9HAY6. 1 interaction.
    STRINGi 9606.ENSP00000258168.

    PTM databases

    PhosphoSitei Q9HAY6.

    Polymorphism databases

    DMDMi 41688803.

    Proteomic databases

    PaxDbi Q9HAY6.
    PRIDEi Q9HAY6.

    Protocols and materials databases

    DNASUi 53630.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258168 ; ENSP00000258168 ; ENSG00000135697 .
    GeneIDi 53630.
    KEGGi hsa:53630.
    UCSCi uc002fgn.1. human.

    Organism-specific databases

    CTDi 53630.
    GeneCardsi GC16P081272.
    HGNCi HGNC:13815. BCMO1.
    HPAi HPA043811.
    MIMi 115300. phenotype.
    605748. gene.
    neXtProti NX_Q9HAY6.
    Orphaneti 199285. Hereditary hypercarotenemia and vitamin A deficiency.
    PharmGKBi PA37812.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3670.
    HOGENOMi HOG000232156.
    HOVERGENi HBG050679.
    InParanoidi Q9HAY6.
    KOi K00515.
    OMAi ITENYIV.
    OrthoDBi EOG7353WB.
    PhylomeDBi Q9HAY6.
    TreeFami TF314019.

    Enzyme and pathway databases

    UniPathwayi UPA00912 .
    BioCyci MetaCyc:HS06050-MONOMER.
    Reactomei REACT_24968. Retinoid metabolism and transport.
    SABIO-RK Q9HAY6.

    Miscellaneous databases

    ChiTaRSi BCMO1. human.
    GenomeRNAii 53630.
    NextBioi 56108.
    PROi Q9HAY6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HAY6.
    Bgeei Q9HAY6.
    CleanExi HS_BCMO1.
    Genevestigatori Q9HAY6.

    Family and domain databases

    InterProi IPR004294. Carotenoid_Oase.
    [Graphical view ]
    PANTHERi PTHR10543. PTHR10543. 1 hit.
    Pfami PF03055. RPE65. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a human beta,beta-carotene-15,15-prime dioxygenase that is highly expressed in the retinal pigment epithelium."
      Yan W., Jang G.-F., Haeseleer F., Esumi N., Chang J., Kerrigan M., Campochiaro M., Campochiaro P., Palczewski K., Zack D.J.
      Genomics 72:193-202(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Retinal pigment epithelium.
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-267.
    4. "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], VARIANT SER-267.
      Tissue: Colon.
    5. "Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A."
      Lindqvist A., Sharvill J., Sharvill D.E., Andersson S.
      J. Nutr. 137:2346-2350(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADHVAD MET-170.

    Entry informationi

    Entry nameiBCDO1_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAY6
    Secondary accession number(s): A0AV48, A0AV50, Q9NVH5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2003
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 106 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 16
      Human chromosome 16: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3