Entity Details

Primary name COX41_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP13073
EntryNameCOX41_HUMAN
FullNameCytochrome c oxidase subunit 4 isoform 1, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length169
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesCOX4I1

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:0005751 mitochondrial respiratory chain complex IV
GO:0005829 cytosol
GO:0006091 generation of precursor metabolites and energy
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0007584 response to nutrient
GO:0016020 membrane
GO:0016021 integral component of membrane

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
619060 OMIMMitochondrial complex IV deficiency, nuclear type 16 (MC4DN16)An autosomal recessive mitochondrial disorder with onset in infancy and variable manifestations. MC4DN16 features include feeding difficulties, poor overall growth, short stature, microcephaly, developmental regression, severe hypotonia, and seizures. Cerebral and cerebellar atrophy, and abnormal lesions in the basal ganglia can be observed on brain imaging. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02659 Cholic AcidDrugbanksmall molecule
DB04464 N-FormylmethionineDrugbanksmall molecule