Gene/Proteome Database (LMPD)

LMPD ID
LMP002550
Gene ID
51004
Species
Homo sapiens (Human)
Gene Name
coenzyme Q6 monooxygenase
Gene Symbol
COQ6
Synonyms
CGI10; COQ10D6
Alternate Names
ubiquinone biosynthesis monooxygenase COQ6; coenzyme Q10 monooxygenase 6; coenzyme Q6 homolog, monooxygenase
Chromosome
14
Map Location
14q24.3
EC Number
1.14.13.-
Summary
The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
Orthologs
View orthologs and multiple alignments for COQ6

Proteins

ubiquinone biosynthesis monooxygenase COQ6 isoform a
Refseq ID NP_872282
Protein GI 32967305
UniProt ID Q9Y2Z9
mRNA ID NM_182476
Length 468
RefSeq Status REVIEWED
MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGGLVGAAMACALGYDIHFHDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQVWDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAVGIQNVSWNYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSDADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHNTALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK
ubiquinone biosynthesis monooxygenase COQ6 isoform b
Refseq ID NP_872286
Protein GI 341926262
UniProt ID Q9Y2Z9
mRNA ID NM_182480
Length 443
RefSeq Status REVIEWED
MRGQGPPLSSFGVWLASRAASDPSRPRRQGYDIHFHDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQVWDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAVGIQNVSWNYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSDADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHNTALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK

Gene Information

Entrez Gene ID
51004
Gene Name
coenzyme Q6 monooxygenase
Gene Symbol
COQ6
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IEA:UniProtKB-KW C Golgi apparatus
GO:0042995 IEA:UniProtKB-KW C cell projection
GO:0005739 IDA:LIFEdb C mitochondrion
GO:0050660 IEA:InterPro F flavin adenine dinucleotide binding
GO:0016709 IEA:InterPro F oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006744 TAS:Reactome P ubiquinone biosynthetic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa01100 Metabolic pathways
hsa00130 Ubiquinone and other terpenoid-quinone biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_160111 Ubiquinol biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR003042 Aromatic-ring hydroxylase-like
IPR002938 Monooxygenase, FAD-binding
IPR010971 Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/UbiI/COQ6
IPR018168 Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6, conserved site
IPR000689 Ubiquinone biosynthesis monooxygenase, COQ6-type

UniProt Annotations

Entry Information

Gene Name
coenzyme Q6 monooxygenase
Protein Entry
COQ6_HUMAN
UniProt ID
Q9Y2Z9
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=a; IsoId=Q9Y2Z9-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q9Y2Z9-2; Sequence=VSP_044060, VSP_044062; Name=3; Synonyms=c; IsoId=Q9Y2Z9-3; Sequence=VSP_044061;
Cofactor Name=FAD; Xref=ChEBI
Disease Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM
Pathway Cofactor biosynthesis; ubiquinone biosynthesis.
Similarity Belongs to the UbiH/COQ6 family.
Subcellular Location Golgi apparatus. Cell projection . Note=Localizes to podocyte cell processes.
Subunit Interacts with ADCK4 and COQ7.
Tissue Specificity Widely epressed.

Identical and Related Proteins

Unique RefSeq proteins for LMP002550 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
32967305 RefSeq NP_872282 468 ubiquinone biosynthesis monooxygenase COQ6 isoform a
341926262 RefSeq NP_872286 443 ubiquinone biosynthesis monooxygenase COQ6 isoform b

Identical Sequences to LMP002550 proteins

Reference Database Accession Length Protein Name
GI:341926262 DBBJ BAH12244.1 443 unnamed protein product [Homo sapiens]
GI:32967305 EMBL CBN59492.1 468 unnamed protein product [Homo sapiens]
GI:32967305 GenBank AAH14181.1 468 Coenzyme Q6 homolog, monooxygenase (S. cerevisiae) [Homo sapiens]
GI:32967305 GenBank EAW81147.1 468 coenzyme Q6 homolog, monooxygenase (yeast), isoform CRA_b [Homo sapiens]
GI:32967305 GenBank ABM83561.1 468 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) [synthetic construct]
GI:32967305 GenBank ABM86799.1 468 coenzyme Q6 homolog, monooxygenase (S. cerevisiae), partial [synthetic construct]
GI:32967305 SwissProt Q9Y2Z9.2 468 RecName: Full=Ubiquinone biosynthesis monooxygenase COQ6; AltName: Full=Coenzyme Q10 monooxygenase 6 [Homo sapiens]

Related Sequences to LMP002550 proteins

Reference Database Accession Length Protein Name
GI:32967305 DBBJ BAD96685.1 468 CGI-10 protein isoform a variant, partial [Homo sapiens]
GI:341926262 EMBL CBN59492.1 468 unnamed protein product [Homo sapiens]
GI:341926262 GenBank AAH14181.1 468 Coenzyme Q6 homolog, monooxygenase (S. cerevisiae) [Homo sapiens]
GI:32967305 GenBank AAH14483.1 468 Coenzyme Q6 homolog, monooxygenase (S. cerevisiae) [Homo sapiens]
GI:341926262 GenBank EAW81147.1 468 coenzyme Q6 homolog, monooxygenase (yeast), isoform CRA_b [Homo sapiens]
GI:341926262 GenBank ABM83561.1 468 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) [synthetic construct]
GI:341926262 GenBank ABM86799.1 468 coenzyme Q6 homolog, monooxygenase (S. cerevisiae), partial [synthetic construct]
GI:32967305 GenBank JAA00807.1 468 coenzyme Q6 homolog, monooxygenase [Pan troglodytes]
GI:32967305 GenBank JAA12018.1 468 coenzyme Q6 homolog, monooxygenase [Pan troglodytes]
GI:32967305 GenBank JAA25239.1 468 coenzyme Q6 homolog, monooxygenase [Pan troglodytes]
GI:32967305 GenBank AIC63397.1 468 COQ6, partial [synthetic construct]
GI:341926262 RefSeq XP_003260786.1 482 PREDICTED: ubiquinone biosynthesis monooxygenase COQ6 isoform 2 [Nomascus leucogenys]