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Q9BYV7 (BCDO2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. 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:
Beta,beta-carotene 9',10'-oxygenase

EC=1.13.11.71
Alternative name(s):
B-diox-II
Beta-carotene dioxygenase 2
Gene names
Name:BCO2
Synonyms:BCDO2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length579 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects. Ref.9

Catalytic activity

All-trans-beta-carotene + O2 = all-trans-10'-apo-beta-carotenal + beta-ionone.

Cofactor

Binds 1 Fe2+ ion per subunit By similarity.

Subcellular location

Mitochondrion Ref.9.

Tissue specificity

Highly expressed in retinal pigment epithelium. Also expressed in stomach, small intestine, liver, testis, kidney, adrenal gland, pancreas, heart, skeletal muscle and prostate (at protein level). Ref.8

Sequence similarities

Belongs to the carotenoid oxygenase family.

Sequence caution

The sequence CAC27994.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BYV7-1)

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: Q9BYV7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9BYV7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.
     501-506: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9BYV7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     173-245: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q9BYV7-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 579579Beta,beta-carotene 9',10'-oxygenase
PRO_0000143937

Sites

Metal binding2261Iron; catalytic By similarity
Metal binding2861Iron; catalytic By similarity
Metal binding3571Iron; catalytic By similarity
Metal binding5731Iron; catalytic By similarity

Natural variations

Alternative sequence1 – 105105Missing in isoform 6.
VSP_046915
Alternative sequence1 – 3434Missing in isoform 2 and isoform 4.
VSP_008599
Alternative sequence173 – 24573Missing in isoform 5.
VSP_046916
Alternative sequence501 – 5066Missing in isoform 4.
VSP_008600
Natural variant2311L → P. Ref.1 Ref.2 Ref.7
Corresponds to variant rs10891338 [ dbSNP | Ensembl ].
VAR_047047
Natural variant2891G → E.
Corresponds to variant rs17113607 [ dbSNP | Ensembl ].
VAR_047048
Natural variant5481I → L. Ref.1 Ref.2 Ref.5 Ref.6 Ref.7
Corresponds to variant rs2217401 [ dbSNP | Ensembl ].
VAR_047049

Experimental info

Sequence conflict261H → Y in CAC27994. Ref.7
Sequence conflict1771N → D in CAC27994. Ref.7
Sequence conflict2581K → E in CAC27994. Ref.7
Sequence conflict4291P → Q in BAG60185. Ref.2
Sequence conflict4461W → C in CAC27994. Ref.7

Sequences

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

Last modified October 5, 2010. Version 5.
Checksum: B14F54FCEC1092CE

FASTA57965,674
        10         20         30         40         50         60 
MFFRVFLHFI RSHSATAVDF LPVMVHRLPV FKRYMGNTPQ KKAVFGQCRG LPCVAPLLTT 

        70         80         90        100        110        120 
VEEAPRGISA RVWGHFPKWL NGSLLRIGPG KFEFGKDKYN HWFDGMALLH QFRMAKGTVT 

       130        140        150        160        170        180 
YRSKFLQSDT YKANSAKNRI VISEFGTLAL PDPCKNVFER FMSRFELPGK AAAMTDNTNV 

       190        200        210        220        230        240 
NYVRYKGDYY LCTETNFMNK VDIETLEKTE KVDWSKFIAV NGATAHPHYD LDGTAYNMGN 

       250        260        270        280        290        300 
SFGPYGFSYK VIRVPPEKVD LGETIHGVQV ICSIASTEKG KPSYYHSFGM TRNYIIFIEQ 

       310        320        330        340        350        360 
PLKMNLWKIA TSKIRGKAFS DGISWEPQCN TRFHVVEKRT GQLLPGRYYS KPFVTFHQIN 

       370        380        390        400        410        420 
AFEDQGCVII DLCCQDNGRT LEVYQLQNLR KAGEGLDQVH NSAAKSFPRR FVLPLNVSLN 

       430        440        450        460        470        480 
APEGDNLSPL SYTSASAVKQ ADGTIWCSHE NLHQEDLEKE GGIEFPQIYY DRFSGKKYHF 

       490        500        510        520        530        540 
FYGCGFRHLV GDSLIKVDVV NKTLKVWRED GFYPSEPVFV PAPGTNEEDG GVILSVVITP 

       550        560        570 
NQNESNFILV LDAKNFEELG RAEVPVQMPY GFHGTFIPI 

« Hide

Isoform 2 [UniParc].

Checksum: E09F77FEBB534B65
Show »

FASTA54561,526
Isoform 4 [UniParc].

Checksum: DD12ACD19DD37669
Show »

FASTA53960,842
Isoform 5 [UniParc].

Checksum: 4E62A2574461C1D4
Show »

FASTA50657,337
Isoform 6 [UniParc].

Checksum: 3C3EA5F8FFB9CFA0
Show »

FASTA47453,630

References

« Hide 'large scale' references
[1]"An ortholog of the human retinal pigment epithelium protein RPE65."
Cunningham F.X. Jr.
Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS PRO-231 AND LEU-548.
Tissue: Uterus.
[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] (ISOFORMS 4 AND 6), VARIANTS PRO-231 AND LEU-548.
Tissue: Heart and Placenta.
[3]NHLBI resequencing and genotyping service (RS&G)
Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-548.
[6]"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 5), VARIANT LEU-548.
Tissue: Brain.
[7]"Identification and characterization of a mammalian enzyme catalyzing the asymmetric oxidative cleavage of provitamin A."
Kiefer C., Hessel S., Lampert J.M., Vogt K., Lederer M.O., Breithaupt D.E., von Lintig J.
J. Biol. Chem. 276:14110-14116(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-579 (ISOFORM 1), VARIANTS PRO-231 AND LEU-548.
Tissue: Liver.
[8]"Cell type-specific expression of beta-carotene 9',10'-monooxygenase in human tissues."
Lindqvist A., He Y.-G., Andersson S.
J. Histochem. Cytochem. 53:1403-1412(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[9]"A mitochondrial enzyme degrades carotenoids and protects against oxidative stress."
Amengual J., Lobo G.P., Golczak M., Li H.N., Klimova T., Hoppel C.L., Wyss A., Palczewski K., von Lintig J.
FASEB J. 25:948-959(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF276432 mRNA. Translation: AAK69433.1.
AK027801 mRNA. Translation: BAB55379.1.
AK297853 mRNA. Translation: BAG60185.1.
EF444956 Genomic DNA. Translation: ACA05952.1.
AP002884 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67192.1.
BC041656 mRNA. Translation: AAH41656.2.
AJ290393 mRNA. Translation: CAC27994.1. Different initiation.
CCDSCCDS41716.1. [Q9BYV7-2]
CCDS58181.1. [Q9BYV7-5]
CCDS58182.1. [Q9BYV7-4]
CCDS58183.1. [Q9BYV7-6]
CCDS8358.2. [Q9BYV7-1]
RefSeqNP_001032367.2. NM_001037290.2.
NP_001243326.1. NM_001256397.1.
NP_001243327.1. NM_001256398.1.
NP_001243329.1. NM_001256400.1.
UniGeneHs.728325.

3D structure databases

ProteinModelPortalQ9BYV7.
SMRQ9BYV7. Positions 57-576.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9BYV7.

Polymorphism databases

DMDM308153680.

Proteomic databases

PaxDbQ9BYV7.
PRIDEQ9BYV7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357685; ENSP00000350314; ENSG00000197580. [Q9BYV7-1]
ENST00000361053; ENSP00000354338; ENSG00000197580. [Q9BYV7-5]
ENST00000393032; ENSP00000376752; ENSG00000197580. [Q9BYV7-2]
ENST00000438022; ENSP00000414843; ENSG00000197580. [Q9BYV7-2]
ENST00000526088; ENSP00000436615; ENSG00000197580. [Q9BYV7-4]
ENST00000531169; ENSP00000437053; ENSG00000197580. [Q9BYV7-2]
ENST00000532593; ENSP00000431802; ENSG00000197580. [Q9BYV7-6]
GeneID83875.
KEGGhsa:83875.
UCSCuc001pne.1. human. [Q9BYV7-1]
uc001png.3. human.

Organism-specific databases

CTD83875.
GeneCardsGC11P112046.
HGNCHGNC:18503. BCO2.
HPAHPA039825.
HPA040695.
MIM611740. gene.
neXtProtNX_Q9BYV7.
PharmGKBPA162377424.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3670.
HOGENOMHOG000232156.
HOVERGENHBG050679.
InParanoidQ9BYV7.
KOK10252.
OMAGCENRSD.
OrthoDBEOG7353WB.
PhylomeDBQ9BYV7.
TreeFamTF314019.

Enzyme and pathway databases

BioCycMetaCyc:G66-33846-MONOMER.
ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ9BYV7.
BgeeQ9BYV7.
CleanExHS_BCO2.
GenevestigatorQ9BYV7.

Family and domain databases

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

Other

ChiTaRSBCO2. human.
GenomeRNAi83875.
NextBio35501420.
PROQ9BYV7.
SOURCESearch...

Entry information

Entry nameBCDO2_HUMAN
AccessionPrimary (citable) accession number: Q9BYV7
Secondary accession number(s): B0YIX5 expand/collapse secondary AC list , B4DNC3, E9PBI8, E9PJJ1, Q8IUS0, Q96JC8, Q96JY5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 111 of the entry and version 5 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