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Q9BYV7

- BCDO2_HUMAN

UniProt

Q9BYV7 - BCDO2_HUMAN

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Protein

Beta,beta-carotene 9',10'-oxygenase

Gene

BCO2

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

Functioni

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.1 Publication

Catalytic activityi

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

Cofactori

Fe2+By similarityNote: Binds 1 Fe(2+) ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi226 – 2261Iron; catalyticBy similarity
Metal bindingi286 – 2861Iron; catalyticBy similarity
Metal bindingi357 – 3571Iron; catalyticBy similarity
Metal bindingi573 – 5731Iron; catalyticBy similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen Source: UniProtKB

GO - Biological processi

  1. carotene catabolic process Source: BHF-UCL
  2. carotene metabolic process Source: UniProtKB
  3. carotenoid metabolic process Source: BHF-UCL
  4. oxidation-reduction process Source: BHF-UCL
  5. regulation of mitochondrial membrane potential Source: BHF-UCL
  6. regulation of reactive oxygen species metabolic process Source: BHF-UCL
  7. retinal metabolic process Source: UniProtKB
  8. retinoic acid metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Oxidoreductase

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:G66-33846-MONOMER.
ReactomeiREACT_24968. Retinoid metabolism and transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta,beta-carotene 9',10'-oxygenase (EC:1.13.11.71)
Alternative name(s):
B-diox-II
Beta-carotene dioxygenase 2
Gene namesi
Name:BCO2
Synonyms:BCDO2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:18503. BCO2.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. intracellular Source: UniProtKB
  2. mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377424.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 579579Beta,beta-carotene 9',10'-oxygenasePRO_0000143937Add
BLAST

Proteomic databases

PaxDbiQ9BYV7.
PRIDEiQ9BYV7.

PTM databases

PhosphoSiteiQ9BYV7.

Expressioni

Tissue specificityi

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).1 Publication

Gene expression databases

BgeeiQ9BYV7.
CleanExiHS_BCO2.
ExpressionAtlasiQ9BYV7. baseline and differential.
GenevestigatoriQ9BYV7.

Organism-specific databases

HPAiHPA039825.
HPA040695.

Structurei

3D structure databases

ProteinModelPortaliQ9BYV7.
SMRiQ9BYV7. Positions 57-576.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the carotenoid oxygenase family.Curated

Phylogenomic databases

eggNOGiCOG3670.
GeneTreeiENSGT00500000044783.
HOGENOMiHOG000232156.
HOVERGENiHBG050679.
KOiK10252.
OMAiGCENRSD.
OrthoDBiEOG7353WB.
PhylomeDBiQ9BYV7.
TreeFamiTF314019.

Family and domain databases

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

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BYV7-1) [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

        10         20         30         40         50
MFFRVFLHFI RSHSATAVDF LPVMVHRLPV FKRYMGNTPQ KKAVFGQCRG
60 70 80 90 100
LPCVAPLLTT VEEAPRGISA RVWGHFPKWL NGSLLRIGPG KFEFGKDKYN
110 120 130 140 150
HWFDGMALLH QFRMAKGTVT YRSKFLQSDT YKANSAKNRI VISEFGTLAL
160 170 180 190 200
PDPCKNVFER FMSRFELPGK AAAMTDNTNV NYVRYKGDYY LCTETNFMNK
210 220 230 240 250
VDIETLEKTE KVDWSKFIAV NGATAHPHYD LDGTAYNMGN SFGPYGFSYK
260 270 280 290 300
VIRVPPEKVD LGETIHGVQV ICSIASTEKG KPSYYHSFGM TRNYIIFIEQ
310 320 330 340 350
PLKMNLWKIA TSKIRGKAFS DGISWEPQCN TRFHVVEKRT GQLLPGRYYS
360 370 380 390 400
KPFVTFHQIN AFEDQGCVII DLCCQDNGRT LEVYQLQNLR KAGEGLDQVH
410 420 430 440 450
NSAAKSFPRR FVLPLNVSLN APEGDNLSPL SYTSASAVKQ ADGTIWCSHE
460 470 480 490 500
NLHQEDLEKE GGIEFPQIYY DRFSGKKYHF FYGCGFRHLV GDSLIKVDVV
510 520 530 540 550
NKTLKVWRED GFYPSEPVFV PAPGTNEEDG GVILSVVITP NQNESNFILV
560 570
LDAKNFEELG RAEVPVQMPY GFHGTFIPI
Length:579
Mass (Da):65,674
Last modified:October 5, 2010 - v5
Checksum:iB14F54FCEC1092CE
GO
Isoform 2 (identifier: Q9BYV7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.

Note: No experimental confirmation available.

Show »
Length:545
Mass (Da):61,526
Checksum:iE09F77FEBB534B65
GO
Isoform 4 (identifier: Q9BYV7-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.
     501-506: Missing.

Note: No experimental confirmation available.

Show »
Length:539
Mass (Da):60,842
Checksum:iDD12ACD19DD37669
GO
Isoform 5 (identifier: Q9BYV7-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-245: Missing.

Note: No experimental confirmation available.

Show »
Length:506
Mass (Da):57,337
Checksum:i4E62A2574461C1D4
GO
Isoform 6 (identifier: Q9BYV7-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.

Note: No experimental confirmation available.

Show »
Length:474
Mass (Da):53,630
Checksum:i3C3EA5F8FFB9CFA0
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261H → Y in CAC27994. (PubMed:11278918)Curated
Sequence conflicti177 – 1771N → D in CAC27994. (PubMed:11278918)Curated
Sequence conflicti258 – 2581K → E in CAC27994. (PubMed:11278918)Curated
Sequence conflicti429 – 4291P → Q in BAG60185. (PubMed:14702039)Curated
Sequence conflicti446 – 4461W → C in CAC27994. (PubMed:11278918)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti231 – 2311L → P.3 Publications
Corresponds to variant rs10891338 [ dbSNP | Ensembl ].
VAR_047047
Natural varianti289 – 2891G → E.
Corresponds to variant rs17113607 [ dbSNP | Ensembl ].
VAR_047048
Natural varianti548 – 5481I → L.5 Publications
Corresponds to variant rs2217401 [ dbSNP | Ensembl ].
VAR_047049

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 105105Missing in isoform 6. 1 PublicationVSP_046915Add
BLAST
Alternative sequencei1 – 3434Missing in isoform 2 and isoform 4. 2 PublicationsVSP_008599Add
BLAST
Alternative sequencei173 – 24573Missing in isoform 5. 1 PublicationVSP_046916Add
BLAST
Alternative sequencei501 – 5066Missing in isoform 4. 1 PublicationVSP_008600

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS41716.1. [Q9BYV7-2]
CCDS58181.1. [Q9BYV7-5]
CCDS58182.1. [Q9BYV7-4]
CCDS58183.1. [Q9BYV7-6]
CCDS8358.2. [Q9BYV7-1]
RefSeqiNP_001032367.2. NM_001037290.2.
NP_001243326.1. NM_001256397.1.
NP_001243327.1. NM_001256398.1.
NP_001243329.1. NM_001256400.1.
UniGeneiHs.728325.

Genome annotation databases

EnsembliENST00000357685; ENSP00000350314; ENSG00000197580. [Q9BYV7-1]
ENST00000361053; ENSP00000354338; ENSG00000197580. [Q9BYV7-5]
ENST00000438022; ENSP00000414843; ENSG00000197580. [Q9BYV7-2]
ENST00000526088; ENSP00000436615; ENSG00000197580. [Q9BYV7-4]
ENST00000531169; ENSP00000437053; ENSG00000197580. [Q9BYV7-2]
ENST00000532593; ENSP00000431802; ENSG00000197580. [Q9BYV7-6]
GeneIDi83875.
KEGGihsa:83875.
UCSCiuc001pne.1. human. [Q9BYV7-1]
uc001png.3. human.

Polymorphism databases

DMDMi308153680.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS41716.1. [Q9BYV7-2 ]
CCDS58181.1. [Q9BYV7-5 ]
CCDS58182.1. [Q9BYV7-4 ]
CCDS58183.1. [Q9BYV7-6 ]
CCDS8358.2. [Q9BYV7-1 ]
RefSeqi NP_001032367.2. NM_001037290.2.
NP_001243326.1. NM_001256397.1.
NP_001243327.1. NM_001256398.1.
NP_001243329.1. NM_001256400.1.
UniGenei Hs.728325.

3D structure databases

ProteinModelPortali Q9BYV7.
SMRi Q9BYV7. Positions 57-576.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q9BYV7.

Polymorphism databases

DMDMi 308153680.

Proteomic databases

PaxDbi Q9BYV7.
PRIDEi Q9BYV7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357685 ; ENSP00000350314 ; ENSG00000197580 . [Q9BYV7-1 ]
ENST00000361053 ; ENSP00000354338 ; ENSG00000197580 . [Q9BYV7-5 ]
ENST00000438022 ; ENSP00000414843 ; ENSG00000197580 . [Q9BYV7-2 ]
ENST00000526088 ; ENSP00000436615 ; ENSG00000197580 . [Q9BYV7-4 ]
ENST00000531169 ; ENSP00000437053 ; ENSG00000197580 . [Q9BYV7-2 ]
ENST00000532593 ; ENSP00000431802 ; ENSG00000197580 . [Q9BYV7-6 ]
GeneIDi 83875.
KEGGi hsa:83875.
UCSCi uc001pne.1. human. [Q9BYV7-1 ]
uc001png.3. human.

Organism-specific databases

CTDi 83875.
GeneCardsi GC11P112046.
HGNCi HGNC:18503. BCO2.
HPAi HPA039825.
HPA040695.
MIMi 611740. gene.
neXtProti NX_Q9BYV7.
PharmGKBi PA162377424.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3670.
GeneTreei ENSGT00500000044783.
HOGENOMi HOG000232156.
HOVERGENi HBG050679.
KOi K10252.
OMAi GCENRSD.
OrthoDBi EOG7353WB.
PhylomeDBi Q9BYV7.
TreeFami TF314019.

Enzyme and pathway databases

BioCyci MetaCyc:G66-33846-MONOMER.
Reactomei REACT_24968. Retinoid metabolism and transport.

Miscellaneous databases

ChiTaRSi BCO2. human.
GenomeRNAii 83875.
NextBioi 35501420.
PROi Q9BYV7.
SOURCEi Search...

Gene expression databases

Bgeei Q9BYV7.
CleanExi HS_BCO2.
ExpressionAtlasi Q9BYV7. baseline and differential.
Genevestigatori Q9BYV7.

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. "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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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.

Entry informationi

Entry nameiBCDO2_HUMAN
AccessioniPrimary (citable) accession number: Q9BYV7
Secondary accession number(s): B0YIX5
, B4DNC3, E9PBI8, E9PJJ1, Q8IUS0, Q96JC8, Q96JY5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 5, 2010
Last modified: November 26, 2014
This is version 115 of the entry and version 5 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