Entity Details

Primary name COX3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP00414
EntryNameCOX3_HUMAN
FullNameCytochrome c oxidase subunit 3
TaxID9606
Evidenceevidence at protein level
Length261
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesCOX3

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:0008535 respiratory chain complex IV assembly
GO:0009055 electron transfer activity
GO:0009060 aerobic respiration
GO:0015453 oxidoreduction-driven active transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0045277 respiratory chain complex IV

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR000298 Cytochrome c oxidase subunit III-likeDomainDomain
IPR013833 Cytochrome c oxidase, subunit III, 4-helical bundleFamilyHomologous superfamily
IPR024791 Cytochrome c oxidase subunit IIIFamilyFamily
IPR033945 Cytochrome c oxidase subunit III domainDomainDomain
IPR035973 Cytochrome c oxidase subunit III-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
220110 OMIMMitochondrial complex IV deficiency (MT-C4D)A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. The disease is caused by variants affecting the gene represented in this entry.
535000 OMIMLeber hereditary optic neuropathy (LHON)A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry.
550500 OMIMRecurrent myoglobinuria mitochondrial (RM-MT)Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. The gene represented in this entry may be involved in disease pathogenesis.

Drugs

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DrugNameSourceType
DB02659 Cholic AcidDrugbanksmall molecule
DB04464 N-FormylmethionineDrugbanksmall molecule