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Protein

5-demethoxyubiquinone hydroxylase, mitochondrial

Gene

COQ7

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

Functioni

Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner.UniRule annotation

Cofactori

Fe cationUniRule annotationNote: Binds 2 iron ions per subunit.UniRule 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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi60Iron 1UniRule annotation1
Metal bindingi90Iron 1UniRule annotation1
Metal bindingi90Iron 2UniRule annotation1
Metal bindingi93Iron 1UniRule annotation1
Metal bindingi142Iron 2UniRule annotation1
Metal bindingi178Iron 1UniRule annotation1
Metal bindingi178Iron 2UniRule annotation1
Metal bindingi181Iron 2UniRule annotation1

GO - Molecular functioni

GO - Biological processi

  • negative regulation of transcription from RNA polymerase II promoter Source: WormBase
  • positive regulation of transcription from RNA polymerase II promoter Source: WormBase
  • regulation of reactive oxygen species metabolic process Source: WormBase
  • ubiquinone biosynthetic process Source: UniProtKB-HAMAP
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Ubiquinone biosynthesis

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000167186-MONOMER.
ZFISH:ENSG00000167186-MONOMER.
ReactomeiR-HSA-2142789. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
5-demethoxyubiquinone hydroxylase, mitochondrialUniRule annotation (EC:1.14.13.-UniRule annotation)
Short name:
DMQ hydroxylaseUniRule annotation
Alternative name(s):
Timing protein clk-1 homologUniRule annotation
Ubiquinone biosynthesis monooxygenase COQ7UniRule annotation
Gene namesi
Name:COQ7UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:2244. COQ7.

Subcellular locationi

  • Mitochondrion inner membrane UniRule annotation; Peripheral membrane protein UniRule annotation; Matrix side UniRule annotation

GO - Cellular componenti

  • extrinsic component of mitochondrial inner membrane Source: UniProtKB-HAMAP
  • mitochondrion Source: WormBase
  • nucleus Source: WormBase
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 8 (COQ10D8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.
See also OMIM:616733
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076370141V → E in COQ10D8. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10229.
MIMi616733. phenotype.
OpenTargetsiENSG00000167186.
PharmGKBiPA26761.

Polymorphism and mutation databases

BioMutaiCOQ7.
DMDMi311033465.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 35MitochondrionSequence analysisAdd BLAST35
ChainiPRO_000007925136 – 2175-demethoxyubiquinone hydroxylase, mitochondrialAdd BLAST182

Proteomic databases

EPDiQ99807.
MaxQBiQ99807.
PaxDbiQ99807.
PeptideAtlasiQ99807.
PRIDEiQ99807.
TopDownProteomicsiQ99807-1. [Q99807-1]
Q99807-2. [Q99807-2]

PTM databases

iPTMnetiQ99807.
PhosphoSitePlusiQ99807.

Expressioni

Tissue specificityi

Expressed dominantly in heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000167186.
CleanExiHS_COQ7.
ExpressionAtlasiQ99807. baseline and differential.
GenevisibleiQ99807. HS.

Organism-specific databases

HPAiHPA067252.

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 COQ6 (PubMed:24270420). Interacts with COQ9 (PubMed:25339443).UniRule annotation2 Publications

Protein-protein interaction databases

BioGridi115523. 23 interactors.
IntActiQ99807. 1 interactor.
STRINGi9606.ENSP00000322316.

Structurei

3D structure databases

ProteinModelPortaliQ99807.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati48 – 1291Add BLAST82
Repeati130 – 2172Add BLAST88

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni48 – 2172 X approximate tandem repeatsAdd BLAST170

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 9Poly-Ala6

Sequence similaritiesi

Belongs to the COQ7 family.UniRule annotation

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG4061. Eukaryota.
COG2941. LUCA.
GeneTreeiENSGT00390000014520.
HOGENOMiHOG000184972.
HOVERGENiHBG002214.
InParanoidiQ99807.
KOiK06134.
OMAiEGHEQVH.
OrthoDBiEOG091G0N8Z.
PhylomeDBiQ99807.
TreeFamiTF314559.

Family and domain databases

CDDicd01042. DMQH. 1 hit.
Gene3Di1.20.1260.10. 1 hit.
HAMAPiMF_01658. COQ7. 1 hit.
InterProiIPR009078. Ferritin-like_SF.
IPR012347. Ferritin-rel.
IPR011566. Ubq_synth_Coq7.
[Graphical view]
PANTHERiPTHR11237. PTHR11237. 1 hit.
PfamiPF03232. COQ7. 1 hit.
[Graphical view]
SUPFAMiSSF47240. SSF47240. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99807-1) [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
MSCAGAAAAP RLWRLRPGAR RSLSAYGRRT SVRFRSSGMT LDNISRAAVD
60 70 80 90 100
RIIRVDHAGE YGANRIYAGQ MAVLGRTSVG PVIQKMWDQE KDHLKKFNEL
110 120 130 140 150
MVTFRVRPTV LMPLWNVLGF ALGAGTALLG KEGAMACTVA VEESIAHHYN
160 170 180 190 200
NQIRTLMEED PEKYEELLQL IKKFRDEELE HHDIGLDHDA ELAPAYAVLK
210
SIIQAGCRVA IYLSERL
Length:217
Mass (Da):24,277
Last modified:November 2, 2010 - v3
Checksum:i37BEC3CEA621B77B
GO
Isoform 2 (identifier: Q99807-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Show »
Length:179
Mass (Da):20,158
Checksum:i9F9453EA670261DA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45S → N in AAC69451 (PubMed:10501970).Curated1
Sequence conflicti69G → W in CAB66582 (PubMed:11230166).Curated1
Sequence conflicti72A → R in AAC69451 (PubMed:10501970).Curated1
Sequence conflicti172K → R in AAC69451 (PubMed:10501970).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055148103T → M.5 PublicationsCorresponds to variant rs11074359dbSNPEnsembl.1
Natural variantiVAR_076370141V → E in COQ10D8. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0390681 – 38Missing in isoform 2. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF098948 mRNA. Translation: AAD43648.1.
AL136647 mRNA. Translation: CAB66582.1.
AK024291 mRNA. Translation: BAB14876.1.
AK315470 mRNA. Translation: BAG37856.1.
AC099518 Genomic DNA. No translation available.
CH471186 Genomic DNA. Translation: EAW50268.1.
BC003185 mRNA. Translation: AAH03185.1.
AF032900 mRNA. Translation: AAC69451.1.
U81276 mRNA. Translation: AAC51120.1.
CCDSiCCDS10574.1. [Q99807-1]
CCDS53993.1. [Q99807-2]
RefSeqiNP_001177912.1. NM_001190983.1. [Q99807-2]
NP_057222.2. NM_016138.4. [Q99807-1]
UniGeneiHs.157113.

Genome annotation databases

EnsembliENST00000321998; ENSP00000322316; ENSG00000167186. [Q99807-1]
ENST00000544894; ENSP00000442923; ENSG00000167186. [Q99807-2]
ENST00000568985; ENSP00000456734; ENSG00000167186. [Q99807-1]
GeneIDi10229.
KEGGihsa:10229.
UCSCiuc002dfr.4. human. [Q99807-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF098948 mRNA. Translation: AAD43648.1.
AL136647 mRNA. Translation: CAB66582.1.
AK024291 mRNA. Translation: BAB14876.1.
AK315470 mRNA. Translation: BAG37856.1.
AC099518 Genomic DNA. No translation available.
CH471186 Genomic DNA. Translation: EAW50268.1.
BC003185 mRNA. Translation: AAH03185.1.
AF032900 mRNA. Translation: AAC69451.1.
U81276 mRNA. Translation: AAC51120.1.
CCDSiCCDS10574.1. [Q99807-1]
CCDS53993.1. [Q99807-2]
RefSeqiNP_001177912.1. NM_001190983.1. [Q99807-2]
NP_057222.2. NM_016138.4. [Q99807-1]
UniGeneiHs.157113.

3D structure databases

ProteinModelPortaliQ99807.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115523. 23 interactors.
IntActiQ99807. 1 interactor.
STRINGi9606.ENSP00000322316.

PTM databases

iPTMnetiQ99807.
PhosphoSitePlusiQ99807.

Polymorphism and mutation databases

BioMutaiCOQ7.
DMDMi311033465.

Proteomic databases

EPDiQ99807.
MaxQBiQ99807.
PaxDbiQ99807.
PeptideAtlasiQ99807.
PRIDEiQ99807.
TopDownProteomicsiQ99807-1. [Q99807-1]
Q99807-2. [Q99807-2]

Protocols and materials databases

DNASUi10229.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321998; ENSP00000322316; ENSG00000167186. [Q99807-1]
ENST00000544894; ENSP00000442923; ENSG00000167186. [Q99807-2]
ENST00000568985; ENSP00000456734; ENSG00000167186. [Q99807-1]
GeneIDi10229.
KEGGihsa:10229.
UCSCiuc002dfr.4. human. [Q99807-1]

Organism-specific databases

CTDi10229.
DisGeNETi10229.
GeneCardsiCOQ7.
H-InvDBHIX0202253.
HGNCiHGNC:2244. COQ7.
HPAiHPA067252.
MIMi601683. gene.
616733. phenotype.
neXtProtiNX_Q99807.
OpenTargetsiENSG00000167186.
PharmGKBiPA26761.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4061. Eukaryota.
COG2941. LUCA.
GeneTreeiENSGT00390000014520.
HOGENOMiHOG000184972.
HOVERGENiHBG002214.
InParanoidiQ99807.
KOiK06134.
OMAiEGHEQVH.
OrthoDBiEOG091G0N8Z.
PhylomeDBiQ99807.
TreeFamiTF314559.

Enzyme and pathway databases

UniPathwayiUPA00232.
BioCyciMetaCyc:ENSG00000167186-MONOMER.
ZFISH:ENSG00000167186-MONOMER.
ReactomeiR-HSA-2142789. Ubiquinol biosynthesis.

Miscellaneous databases

GeneWikiiCOQ7.
GenomeRNAii10229.
PROiQ99807.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167186.
CleanExiHS_COQ7.
ExpressionAtlasiQ99807. baseline and differential.
GenevisibleiQ99807. HS.

Family and domain databases

CDDicd01042. DMQH. 1 hit.
Gene3Di1.20.1260.10. 1 hit.
HAMAPiMF_01658. COQ7. 1 hit.
InterProiIPR009078. Ferritin-like_SF.
IPR012347. Ferritin-rel.
IPR011566. Ubq_synth_Coq7.
[Graphical view]
PANTHERiPTHR11237. PTHR11237. 1 hit.
PfamiPF03232. COQ7. 1 hit.
[Graphical view]
SUPFAMiSSF47240. SSF47240. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCOQ7_HUMAN
AccessioniPrimary (citable) accession number: Q99807
Secondary accession number(s): B2RDA9
, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: November 2, 2016
This is version 156 of the entry and version 3 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 16
    Human chromosome 16: 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.