Entity Details

Primary name COX42_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96KJ9
EntryNameCOX42_HUMAN
FullNameCytochrome c oxidase subunit 4 isoform 2, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length171
SequenceStatuscomplete
DateCreated2002-04-03
DateModified2021-06-02

Ontological Relatives

GenesCOX4I2

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005751 mitochondrial respiratory chain complex IV
GO:0006091 generation of precursor metabolites and energy
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0016021 integral component of membrane
GO:0045333 cellular respiration
GO:0071456 cellular response to hypoxia

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR004203 Cytochrome c oxidase subunit IV familyFamilyFamily
IPR013288 Cytochrome c oxidase subunit IVFamilyFamily
IPR036639 Cytochrome c oxidase subunit IV superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612714 OMIMExocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH)Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. The disease is caused by variants affecting the gene represented in this entry.