Entity Details

Primary name COQ7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99807
EntryNameCOQ7_HUMAN
FullName5-demethoxyubiquinone hydroxylase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length217
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesCOQ7

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006744 ubiquinone biosynthetic process
GO:0008340 determination of adult lifespan
GO:0008682 2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity
GO:0010468 regulation of gene expression
GO:0016709 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:0031314 extrinsic component of mitochondrial inner membrane
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:2000377 regulation of reactive oxygen species metabolic process

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR009078 Ferritin-like superfamilyFamilyHomologous superfamily
IPR011566 Ubiquinone biosynthesis protein Coq7FamilyFamily

Diseases

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Disease IDSourceNameDescription
616733 OMIMCoenzyme Q10 deficiency, primary, 8 (COQ10D8)An 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
COQ7_HUMANCOQ3_HUMANBioGRID, IntAct27499296 details
COQ7_HUMANCOQ4_HUMANBioGRID, IntAct27499296 details
COQ7_HUMANCOQ5_HUMANBioGRID, IntAct27499296 details
COQ7_HUMANCOQ6_HUMANIntAct27499296 details
COQ7_HUMANCOQ9_HUMANBioGRID, IntAct27499296 details