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Q9HAY6

- BCDO1_HUMAN

UniProt

Q9HAY6 - BCDO1_HUMAN

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Protein

Beta,beta-carotene 15,15'-monooxygenase

Gene
BCMO1, BCDO, BCDO1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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; catalytic By similarity
Metal bindingi237 – 2371Iron; catalytic By similarity
Metal bindingi308 – 3081Iron; catalytic By similarity
Metal bindingi514 – 5141Iron; catalytic By 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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

Family & Domainsi

Sequence similaritiesi

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti302 – 3021D → G in BAA91776. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 105 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

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