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Q9HAY6 (BCDO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta,beta-carotene 15,15'-monooxygenase

EC=1.14.99.36
Alternative name(s):
Beta-carotene dioxygenase 1
Gene names
Name:BCMO1
Synonyms:BCDO, BCDO1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length547 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 activity

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

Cofactor

Binds 1 Fe2+ ion per subunit By similarity.

Pathway

Cofactor metabolism; retinol metabolism.

Tissue specificity

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

Involvement in disease

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. Ref.5

Sequence similarities

Belongs to the carotenoid oxygenase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 547547Beta,beta-carotene 15,15'-monooxygenase
PRO_0000143933

Sites

Metal binding1721Iron; catalytic By similarity
Metal binding2371Iron; catalytic By similarity
Metal binding3081Iron; catalytic By similarity
Metal binding5141Iron; catalytic By similarity

Natural variations

Natural variant1701T → 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. Ref.5
Corresponds to variant rs119478057 [ dbSNP | Ensembl ].
VAR_058112
Natural variant2671R → S. Ref.3 Ref.4
Corresponds to variant rs12934922 [ dbSNP | Ensembl ].
VAR_048406
Natural variant3791A → V.
Corresponds to variant rs7501331 [ dbSNP | Ensembl ].
VAR_048407

Experimental info

Sequence conflict3021D → G in BAA91776. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9HAY6 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: F94BC8B01D56F9CB

FASTA54762,637
        10         20         30         40         50         60 
MDIIFGRNRK EQLEPVRAKV TGKIPAWLQG TLLRNGPGMH TVGESRYNHW FDGLALLHSF 

        70         80         90        100        110        120 
TIRDGEVYYR SKYLRSDTYN TNIEANRIVV SEFGTMAYPD PCKNIFSKAF SYLSHTIPDF 

       130        140        150        160        170        180 
TDNCLINIMK CGEDFYATSE TNYIRKINPQ TLETLEKVDY RKYVAVNLAT SHPHYDEAGN 

       190        200        210        220        230        240 
VLNMGTSIVE KGKTKYVIFK IPATVPEGKK QGKSPWKHTE VFCSIPSRSL LSPSYYHSFG 

       250        260        270        280        290        300 
VTENYVIFLE QPFRLDILKM ATAYIRRMSW ASCLAFHREE KTYIHIIDQR TRQPVQTKFY 

       310        320        330        340        350        360 
TDAMVVFHHV NAYEEDGCIV FDVIAYEDNS LYQLFYLANL NQDFKENSRL TSVPTLRRFA 

       370        380        390        400        410        420 
VPLHVDKNAE VGTNLIKVAS TTATALKEED GQVYCQPEFL YEGLELPRVN YAHNGKQYRY 

       430        440        450        460        470        480 
VFATGVQWSP IPTKIIKYDI LTKSSLKWRE DDCWPAEPLF VPAPGAKDED DGVILSAIVS 

       490        500        510        520        530        540 
TDPQKLPFLL ILDAKSFTEL ARASVDVDMH MDLHGLFITD MDWDTKKQAA SEEQRDRASD 


CHGAPLT 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_059125.2. NM_017429.2.
UniGeneHs.212172.

3D structure databases

ProteinModelPortalQ9HAY6.
SMRQ9HAY6. Positions 10-517.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9HAY6. 1 interaction.
STRING9606.ENSP00000258168.

PTM databases

PhosphoSiteQ9HAY6.

Polymorphism databases

DMDM41688803.

Proteomic databases

PaxDbQ9HAY6.
PRIDEQ9HAY6.

Protocols and materials databases

DNASU53630.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258168; ENSP00000258168; ENSG00000135697.
GeneID53630.
KEGGhsa:53630.
UCSCuc002fgn.1. human.

Organism-specific databases

CTD53630.
GeneCardsGC16P081272.
HGNCHGNC:13815. BCMO1.
HPAHPA043811.
MIM115300. phenotype.
605748. gene.
neXtProtNX_Q9HAY6.
Orphanet199285. Hereditary hypercarotenemia and vitamin A deficiency.
PharmGKBPA37812.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3670.
HOGENOMHOG000232156.
HOVERGENHBG050679.
InParanoidQ9HAY6.
KOK00515.
OMASWASCMA.
OrthoDBEOG7353WB.
PhylomeDBQ9HAY6.
TreeFamTF314019.

Enzyme and pathway databases

BioCycMetaCyc:HS06050-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
SABIO-RKQ9HAY6.
UniPathwayUPA00912.

Gene expression databases

ArrayExpressQ9HAY6.
BgeeQ9HAY6.
CleanExHS_BCMO1.
GenevestigatorQ9HAY6.

Family and domain databases

InterProIPR004294. Carotenoid_Oase.
[Graphical view]
PANTHERPTHR10543. PTHR10543. 1 hit.
PfamPF03055. RPE65. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBCMO1. human.
GenomeRNAi53630.
NextBio56108.
PROQ9HAY6.
SOURCESearch...

Entry information

Entry nameBCDO1_HUMAN
AccessionPrimary (citable) accession number: Q9HAY6
Secondary accession number(s): A0AV48, A0AV50, Q9NVH5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 102 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

PATHWAY comments

Index of metabolic and biosynthesis pathways

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 16

Human chromosome 16: entries, gene names and cross-references to MIM