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Protein

Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial

Gene

COQ6

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

Functioni

FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3-polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6.UniRule annotation

Cofactori

FADUniRule annotation

Pathwayi: ubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.UniRule annotation
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Ubiquinone biosynthesis

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000119723-MONOMER.
ZFISH:ENSG00000119723-MONOMER.
ReactomeiR-HSA-2142789. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinone biosynthesis monooxygenase COQ6, mitochondrialUniRule annotation (EC:1.14.13.-UniRule annotation)
Alternative name(s):
Coenzyme Q10 monooxygenase 6UniRule annotation
Gene namesi
Name:COQ6UniRule annotation
ORF Names:CGI-10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20233. COQ6.

Subcellular locationi

  • Mitochondrion inner membrane UniRule annotation; Peripheral membrane protein UniRule annotation; Matrix side UniRule annotation
  • Golgi apparatus UniRule annotation
  • Cell projection UniRule annotation

  • Note: Localizes to cell processes and Golgi apparatus in podocytes.UniRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 6 (COQ10D6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.
See also OMIM:614650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068216255G → R in COQ10D6. 1 Publication1
Natural variantiVAR_068218353A → D in COQ10D6. 1 PublicationCorresponds to variant rs397514479dbSNPEnsembl.1

Mutations in COQ6 may play a role in susceptibility to Schwannomatosis, a cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi51004.
MalaCardsiCOQ6.
MIMi614650. phenotype.
OpenTargetsiENSG00000119723.
Orphaneti280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
93921. Neurofibromatosis type 3.
PharmGKBiPA134940980.

Polymorphism and mutation databases

BioMutaiCOQ6.
DMDMi26006952.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionSequence analysisAdd BLAST28
ChainiPRO_000020758329 – 468Ubiquinone biosynthesis monooxygenase COQ6, mitochondrialAdd BLAST440

Proteomic databases

EPDiQ9Y2Z9.
PaxDbiQ9Y2Z9.
PeptideAtlasiQ9Y2Z9.
PRIDEiQ9Y2Z9.

PTM databases

iPTMnetiQ9Y2Z9.
PhosphoSitePlusiQ9Y2Z9.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000119723.
CleanExiHS_COQ6.
ExpressionAtlasiQ9Y2Z9. baseline and differential.
GenevisibleiQ9Y2Z9. HS.

Organism-specific databases

HPAiHPA051371.

Interactioni

Subunit structurei

Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (By similarity). Interacts with COQ8B and COQ7 (PubMed:24270420).UniRule annotation1 Publication

Protein-protein interaction databases

BioGridi119212. 32 interactors.
IntActiQ9Y2Z9. 3 interactors.
MINTiMINT-1391142.
STRINGi9606.ENSP00000333946.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2Z9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UbiH/COQ6 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3855. Eukaryota.
COG0654. LUCA.
GeneTreeiENSGT00390000015152.
HOGENOMiHOG000255772.
HOVERGENiHBG029533.
InParanoidiQ9Y2Z9.
KOiK06126.
OMAiSCRRWSG.
OrthoDBiEOG091G0NNO.
PhylomeDBiQ9Y2Z9.
TreeFamiTF105772.

Family and domain databases

Gene3Di3.50.50.60. 2 hits.
HAMAPiMF_03193. COQ6_monooxygenase. 1 hit.
InterProiIPR002938. FAD-bd.
IPR023753. FAD/NAD-binding_dom.
IPR018168. Ubi_Hdrlase_CS.
IPR010971. UbiH/COQ6.
IPR000689. UbQ_mOase_COQ6.
[Graphical view]
PfamiPF01494. FAD_binding_3. 2 hits.
[Graphical view]
SUPFAMiSSF51905. SSF51905. 2 hits.
TIGRFAMsiTIGR01989. COQ6. 1 hit.
TIGR01988. Ubi-OHases. 1 hit.
PROSITEiPS01304. UBIH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2Z9-1) [UniParc]FASTAAdd to basket
Also known as: a

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
MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM
60 70 80 90 100
ACALGYDIHF HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS
110 120 130 140 150
FGAWDHICNM RYRAFRRMQV WDACSEALIM FDKDNLDDMG YIVENDVIMH
160 170 180 190 200
ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF PMADSSPWVH ITLGDGSTFQ
210 220 230 240 250
TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE ATENNVAWQR
260 270 280 290 300
FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD
310 320 330 340 350
ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL
360 370 380 390 400
GHAAEYVRPR VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG
410 420 430 440 450
KDLGSVSHLT GYETERQRHN TALLAATDLL KRLYSTSASP LVLLRTWGLQ
460
ATNAVSPLKE QIMAFASK
Length:468
Mass (Da):50,870
Last modified:November 28, 2002 - v2
Checksum:i9613629BA501B60B
GO
Isoform 2 (identifier: Q9Y2Z9-2) [UniParc]FASTAAdd to basket
Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
     2-119: AARLVSRCGA...MRYRAFRRMQ → IFTFMTRKSC...FPLALQRFSV
     460-461: Missing.

Show »
Length:391
Mass (Da):42,874
Checksum:iAC06474D2687E80E
GO
Isoform 3 (identifier: Q9Y2Z9-3) [UniParc]FASTAAdd to basket
Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     2-54: AARLVSRCGA...LVGAAMACAL → RGQGPPLSSFGVWLASRAASDPSRPRRQ

Show »
Length:443
Mass (Da):48,593
Checksum:i61F3E8B19575633D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22 – 30VSWRRWSGA → AVLAQVVRR in AAD27719 (PubMed:10810093).Curated9
Sequence conflicti317A → P in AAD27719 (PubMed:10810093).Curated1
Sequence conflicti336 – 337AR → PW in AAD27719 (PubMed:10810093).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075225208D → H Probable disease-associated mutation found in patients with Schwannomatosis; loss of function. 1 PublicationCorresponds to variant rs606231262dbSNPEnsembl.1
Natural variantiVAR_068216255G → R in COQ10D6. 1 Publication1
Natural variantiVAR_068217287E → K.1 PublicationCorresponds to variant rs17851169dbSNPEnsembl.1
Natural variantiVAR_052691300D → Y.Corresponds to variant rs1044640dbSNPEnsembl.1
Natural variantiVAR_033813339D → V.Corresponds to variant rs2074930dbSNPEnsembl.1
Natural variantiVAR_068218353A → D in COQ10D6. 1 PublicationCorresponds to variant rs397514479dbSNPEnsembl.1
Natural variantiVAR_033814395T → M.Corresponds to variant rs34746680dbSNPEnsembl.1
Natural variantiVAR_014953406V → M.1 PublicationCorresponds to variant rs8500dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0440602 – 119AARLV…FRRMQ → IFTFMTRKSCCSKQVQRKYW RNCQKLTATGSAPFPLALQR FSV in isoform 2. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0440612 – 54AARLV…MACAL → RGQGPPLSSFGVWLASRAAS DPSRPRRQ in isoform 3. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_044062460 – 461Missing in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF132944 mRNA. Translation: AAD27719.1.
AK296040 mRNA. Translation: BAH12244.1.
BX248000 mRNA. Translation: CAD62332.1.
AK222965 mRNA. Translation: BAD96685.1.
AC005480 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81148.1.
BC014181 mRNA. Translation: AAH14181.1.
BC014483 mRNA. Translation: AAH14483.1.
CCDSiCCDS9823.1. [Q9Y2Z9-1]
CCDS9824.2. [Q9Y2Z9-3]
RefSeqiNP_872282.1. NM_182476.2. [Q9Y2Z9-1]
NP_872286.2. NM_182480.2. [Q9Y2Z9-3]
UniGeneiHs.131555.

Genome annotation databases

EnsembliENST00000334571; ENSP00000333946; ENSG00000119723. [Q9Y2Z9-1]
ENST00000394026; ENSP00000377594; ENSG00000119723. [Q9Y2Z9-3]
GeneIDi51004.
KEGGihsa:51004.
UCSCiuc001xph.4. human. [Q9Y2Z9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF132944 mRNA. Translation: AAD27719.1.
AK296040 mRNA. Translation: BAH12244.1.
BX248000 mRNA. Translation: CAD62332.1.
AK222965 mRNA. Translation: BAD96685.1.
AC005480 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81148.1.
BC014181 mRNA. Translation: AAH14181.1.
BC014483 mRNA. Translation: AAH14483.1.
CCDSiCCDS9823.1. [Q9Y2Z9-1]
CCDS9824.2. [Q9Y2Z9-3]
RefSeqiNP_872282.1. NM_182476.2. [Q9Y2Z9-1]
NP_872286.2. NM_182480.2. [Q9Y2Z9-3]
UniGeneiHs.131555.

3D structure databases

ProteinModelPortaliQ9Y2Z9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119212. 32 interactors.
IntActiQ9Y2Z9. 3 interactors.
MINTiMINT-1391142.
STRINGi9606.ENSP00000333946.

PTM databases

iPTMnetiQ9Y2Z9.
PhosphoSitePlusiQ9Y2Z9.

Polymorphism and mutation databases

BioMutaiCOQ6.
DMDMi26006952.

Proteomic databases

EPDiQ9Y2Z9.
PaxDbiQ9Y2Z9.
PeptideAtlasiQ9Y2Z9.
PRIDEiQ9Y2Z9.

Protocols and materials databases

DNASUi51004.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334571; ENSP00000333946; ENSG00000119723. [Q9Y2Z9-1]
ENST00000394026; ENSP00000377594; ENSG00000119723. [Q9Y2Z9-3]
GeneIDi51004.
KEGGihsa:51004.
UCSCiuc001xph.4. human. [Q9Y2Z9-1]

Organism-specific databases

CTDi51004.
DisGeNETi51004.
GeneCardsiCOQ6.
HGNCiHGNC:20233. COQ6.
HPAiHPA051371.
MalaCardsiCOQ6.
MIMi614647. gene.
614650. phenotype.
neXtProtiNX_Q9Y2Z9.
OpenTargetsiENSG00000119723.
Orphaneti280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
93921. Neurofibromatosis type 3.
PharmGKBiPA134940980.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3855. Eukaryota.
COG0654. LUCA.
GeneTreeiENSGT00390000015152.
HOGENOMiHOG000255772.
HOVERGENiHBG029533.
InParanoidiQ9Y2Z9.
KOiK06126.
OMAiSCRRWSG.
OrthoDBiEOG091G0NNO.
PhylomeDBiQ9Y2Z9.
TreeFamiTF105772.

Enzyme and pathway databases

UniPathwayiUPA00232.
BioCyciMetaCyc:ENSG00000119723-MONOMER.
ZFISH:ENSG00000119723-MONOMER.
ReactomeiR-HSA-2142789. Ubiquinol biosynthesis.

Miscellaneous databases

GenomeRNAii51004.
PROiQ9Y2Z9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119723.
CleanExiHS_COQ6.
ExpressionAtlasiQ9Y2Z9. baseline and differential.
GenevisibleiQ9Y2Z9. HS.

Family and domain databases

Gene3Di3.50.50.60. 2 hits.
HAMAPiMF_03193. COQ6_monooxygenase. 1 hit.
InterProiIPR002938. FAD-bd.
IPR023753. FAD/NAD-binding_dom.
IPR018168. Ubi_Hdrlase_CS.
IPR010971. UbiH/COQ6.
IPR000689. UbQ_mOase_COQ6.
[Graphical view]
PfamiPF01494. FAD_binding_3. 2 hits.
[Graphical view]
SUPFAMiSSF51905. SSF51905. 2 hits.
TIGRFAMsiTIGR01989. COQ6. 1 hit.
TIGR01988. Ubi-OHases. 1 hit.
PROSITEiPS01304. UBIH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOQ6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2Z9
Secondary accession number(s): B7Z3K8
, Q53GG6, Q86U30, Q96CA1, Q96CK2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 28, 2002
Last modified: November 2, 2016
This is version 150 of the entry and version 2 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 14
    Human chromosome 14: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.