CleftGeneDB-Search

Gene: Bco2

Basic information

Tag	Content
Uniprot ID	Q99NF1
Entrez ID	170752
Genbank protein ID	CAC28026.1
Genbank nucleotide ID	XM_006510045.1; NM_133217.3; XM_006510046.3; XM_006510044.3;
Ensembl protein ID	ENSMUSP00000112727
Ensembl nucleotide ID	ENSMUSG00000032066
Gene name	Beta,beta-carotene 9',10'-oxygenase
Gene symbol	Bco2
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	29892071
Functional description	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.
Sequence	MLGPKQSLPC IAPLLTTAEE TLSAVSARVR GHIPEWLNGY LLRVGPGKFE FGKDRYNHWF 60 DGMALLHQFR MERGTVTYKS KFLQSDTYKA NSAGGRIVIS EFGTLALPDP CKSIFERFMS 120 RFEPPTMTDN TNVNFVQYKG DYYMSTETNF MNKVDIEMLE RTEKVDWSKF IAVNGATAHP 180 HYDPDGTAYN MGNSYGPRGS CYNIIRVPPK KKEPGETIHG AQVLCSIAST EKMKPSYYHS 240 FGMTKNYIIF VEQPVKMKLW KIITSKIRGK PFADGISWEP QYNTRFHVVD KHTGQLLPGM 300 YYSMPFLTYH QINAFEDQGC IVIDLCCQDD GRSLDLYQLQ NLRKAGEGLD QVYELKAKSF 360 PRRFVLPLDV SVDAAEGKNL SPLSYSSASA VKQGDGEIWC SPENLHHEDL EEEGGIEFPQ 420 INYGRFNGKK YSFFYGCGFR HLVGDSLIKV DVTNKTLRVW REEGFYPSEP VFVPVPGADE 480 EDSGVILSVV ITPNQSESNF LLVLDAKSFT ELGRAEVPVQ MPYGFHGTFV PI 532

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	BCO2	479437	E2RS36			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BCO2		A0A452E744			Capra hircus	Prediction	More>>
1:1 ortholog	BCO2	83875	Q9BYV7			Homo sapiens	Prediction	More>>
1:1 ortholog	Bco2	170752	Q99NF1	CPO		Mus musculus	Publication	More>>
1:1 ortholog	BCO2	451548	H2R4A4			Pan troglodytes	Prediction	More>>
1:1 ortholog	BCO2	100344631	G1SXN4			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bco2	315644	A3KN98			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IBA
GO:0004744	retinal isomerase activity	IBA
GO:0010436	carotenoid dioxygenase activity	IBA
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	ISO
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA
GO:0046872	metal ion binding	IEA
GO:0102076	beta,beta-carotene-9',10'-cleaving oxygenase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0016116	carotenoid metabolic process	IMP
GO:0016119	carotene metabolic process	ISO
GO:0016119	carotene metabolic process	IDA
GO:0016121	carotene catabolic process	ISO
GO:0016121	carotene catabolic process	IDA
GO:0016121	carotene catabolic process	IBA
GO:0016122	xanthophyll metabolic process	IMP
GO:0042573	retinoic acid metabolic process	NAS
GO:0042574	retinal metabolic process	NAS
GO:0042574	retinal metabolic process	IGI
GO:0051881	regulation of mitochondrial membrane potential	IMP
GO:0055114	oxidation-reduction process	ISO
GO:0055114	oxidation-reduction process	IDA
GO:2000377	regulation of reactive oxygen species metabolic process	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	IDA
GO:0005739	mitochondrion	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1430728	Metabolism	IEA
R-MMU-162582	Signal Transduction	IEA
R-MMU-196854	Metabolism of vitamins and cofactors	IEA
R-MMU-2187338	Visual phototransduction	IEA
R-MMU-372790	Signaling by GPCR	IEA
R-MMU-388396	GPCR downstream signalling	IEA
R-MMU-418594	G alpha (i) signalling events	IEA
R-MMU-6806667	Metabolism of fat-soluble vitamins	IEA
R-MMU-975634	Retinoid metabolism and transport	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0223	Dioxygenase
KW-0408	Iron
KW-0479	Metal-binding
KW-0496	Mitochondrion
KW-0560	Oxidoreductase
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR004294	Carotenoid_Oase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03055	RPE65