Entity Details

Primary name COX15_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7KZN9
EntryNameCOX15_HUMAN
FullNameCytochrome c oxidase assembly protein COX15 homolog
TaxID9606
Evidenceevidence at protein level
Length410
SequenceStatuscomplete
DateCreated2004-08-16
DateModified2021-06-02

Ontological Relatives

GenesCOX15

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respirasome
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0006783 heme biosynthetic process
GO:0006784 heme A biosynthetic process
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0008535 respiratory chain complex IV assembly
GO:0016021 integral component of membrane
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors
GO:0016653 oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor
GO:0020037 heme binding
GO:0045333 cellular respiration
GO:0060090 molecular adaptor activity
GO:0070069 cytochrome complex
GO:1902600 proton transmembrane transport

Subcellular Location

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Subcellular Location
Mitochondrion membrane

Domains

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DomainNameCategoryType
IPR003780 COX15/CtaA familyFamilyFamily
IPR009003 Peptidase S1, PA clanFamilyHomologous superfamily
IPR023754 Heme A synthase, type 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
615119 OMIMMitochondrial complex IV deficiency, nuclear type 6 (MC4DN6)An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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