Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

5-demethoxyubiquinone hydroxylase, mitochondrial

Gene

COQ7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processUbiquinone biosynthesis
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000167186-MONOMER
ReactomeiR-HSA-2142789 Ubiquinol biosynthesis
UniPathwayi
UPA00232

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

EuPathDBiHostDB:ENSG00000167186.10
HGNCiHGNC:2244 COQ7
MIMi601683 gene
neXtProtiNX_Q99807

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 PublicationCorresponds to variant dbSNP:rs864321686EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi10229
MalaCardsiCOQ7
MIMi616733 phenotype
OpenTargetsiENSG00000167186
PharmGKBiPA26761

Polymorphism and mutation databases

BioMutaiCOQ7
DMDMi311033465

PTM / Processingi

Molecule processing

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

Proteomic databases

EPDiQ99807
MaxQBiQ99807
PaxDbiQ99807
PeptideAtlasiQ99807
PRIDEiQ99807
ProteomicsDBi78485
78486 [Q99807-2]
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 Expressed in 179 organ(s), highest expression level in testis
CleanExiHS_COQ7
ExpressionAtlasiQ99807 baseline and differential
GenevisibleiQ99807 HS

Organism-specific databases

HPAiHPA067252
HPA071922

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

Binary interactionsi

Protein-protein interaction databases

BioGridi115523, 24 interactors
DIPiDIP-62092N
IntActiQ99807, 29 interactors
STRINGi9606.ENSP00000322316

Structurei

3D structure databases

ProteinModelPortaliQ99807
SMRiQ99807
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
OMAiTIGHMWE
OrthoDBiEOG091G0N8Z
PhylomeDBiQ99807
TreeFamiTF314559

Family and domain databases

CDDicd01042 DMQH, 1 hit
HAMAPiMF_01658 COQ7, 1 hit
InterProiView protein in InterPro
IPR009078 Ferritin-like_SF
IPR011566 Ubq_synth_Coq7
PANTHERiPTHR11237 PTHR11237, 1 hit
PfamiView protein in Pfam
PF03232 COQ7, 1 hit
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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP28H3BP28_HUMAN
5-demethoxyubiquinone hydroxylase, ...
COQ7
194Annotation score:
H3BTN8H3BTN8_HUMAN
5-demethoxyubiquinone hydroxylase, ...
COQ7
130Annotation score:
I3L1T0I3L1T0_HUMAN
5-demethoxyubiquinone hydroxylase, ...
COQ7 hCG_1743024
136Annotation score:
H3BSZ3H3BSZ3_HUMAN
5-demethoxyubiquinone hydroxylase, ...
COQ7
103Annotation score:
H3BS11H3BS11_HUMAN
5-demethoxyubiquinone hydroxylase, ...
COQ7
106Annotation score:

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 → M5 PublicationsCorresponds to variant dbSNP:rs11074359Ensembl.1
Natural variantiVAR_076370141V → E in COQ10D8. 1 PublicationCorresponds to variant dbSNP:rs864321686EnsemblClinVar.1

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

Similar proteinsi

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
SMRiQ99807
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115523, 24 interactors
DIPiDIP-62092N
IntActiQ99807, 29 interactors
STRINGi9606.ENSP00000322316

PTM databases

iPTMnetiQ99807
PhosphoSitePlusiQ99807

Polymorphism and mutation databases

BioMutaiCOQ7
DMDMi311033465

Proteomic databases

EPDiQ99807
MaxQBiQ99807
PaxDbiQ99807
PeptideAtlasiQ99807
PRIDEiQ99807
ProteomicsDBi78485
78486 [Q99807-2]
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
EuPathDBiHostDB:ENSG00000167186.10
GeneCardsiCOQ7
H-InvDBiHIX0202253
HGNCiHGNC:2244 COQ7
HPAiHPA067252
HPA071922
MalaCardsiCOQ7
MIMi601683 gene
616733 phenotype
neXtProtiNX_Q99807
OpenTargetsiENSG00000167186
PharmGKBiPA26761
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayi
UPA00232

BioCyciMetaCyc:ENSG00000167186-MONOMER
ReactomeiR-HSA-2142789 Ubiquinol biosynthesis

Miscellaneous databases

GeneWikiiCOQ7
GenomeRNAii10229
PROiPR:Q99807
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167186 Expressed in 179 organ(s), highest expression level in testis
CleanExiHS_COQ7
ExpressionAtlasiQ99807 baseline and differential
GenevisibleiQ99807 HS

Family and domain databases

CDDicd01042 DMQH, 1 hit
HAMAPiMF_01658 COQ7, 1 hit
InterProiView protein in InterPro
IPR009078 Ferritin-like_SF
IPR011566 Ubq_synth_Coq7
PANTHERiPTHR11237 PTHR11237, 1 hit
PfamiView protein in Pfam
PF03232 COQ7, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: October 10, 2018
This is version 169 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again