Entity Details

Primary name COA6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5JTJ3
EntryNameCOA6_HUMAN
FullNameCytochrome c oxidase assembly factor 6 homolog
TaxID9606
Evidenceevidence at protein level
Length125
SequenceStatuscomplete
DateCreated2007-03-20
DateModified2021-06-02

Ontological Relatives

GenesCOA6

GO terms

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GOName
GO:0003723 RNA binding
GO:0005507 copper ion binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005886 plasma membrane
GO:0008535 respiratory chain complex IV assembly
GO:0042774 plasma membrane ATP synthesis coupled electron transport
GO:0045277 respiratory chain complex IV

Subcellular Location

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Subcellular Location
Mitochondrion intermembrane space

Domains

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DomainNameCategoryType
IPR003213 Cytochrome c oxidase, subunit VIbFamilyFamily
IPR036549 Cytochrome c oxidase, subunit VIb superfamilyFamilyHomologous superfamily
IPR042289 Cytochrome c oxidase assembly factor 6 homologFamilyFamily

Diseases

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Disease IDSourceNameDescription
616501 OMIMMitochondrial complex IV deficiency, nuclear type 13 (MC4DN13)An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions