Entity Details

Primary name CX6A1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP12074
EntryNameCX6A1_HUMAN
FullNameCytochrome c oxidase subunit 6A1, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length109
SequenceStatuscomplete
DateCreated1989-10-01
DateModified2021-06-02

Ontological Relatives

GenesCOX6A1

GO terms

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GOName
GO:0004129 cytochrome-c oxidase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
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:0030234 enzyme regulator activity

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR001349 Cytochrome c oxidase, subunit VIaFamilyFamily
IPR018507 Cytochrome c oxidase, subunit VIa, conserved siteSiteConserved site
IPR036418 Cytochrome c oxidase, subunit VIa superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616039 OMIMCharcot-Marie-Tooth disease, recessive, intermediate type, D (CMTRID)A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
CX6A1_HUMANGRB2_HUMANBioGRID, IntAct18624398 details
CX6A1_HUMANHD_HUMANIntAct17500595 32814053 details
CX6A1_HUMANLXN_HUMANBioGRID, IntAct32296183 details