Entity Details

Primary name NU6M_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP03923
EntryNameNU6M_HUMAN
FullNameNADH-ubiquinone oxidoreductase chain 6
TaxID9606
Evidenceevidence at protein level
Length174
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesND6

GO terms

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GOName
GO:0005743 mitochondrial inner membrane
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0016021 integral component of membrane
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0035094 response to nicotine
GO:0042220 response to cocaine
GO:0042542 response to hydrogen peroxide
GO:0070469 respirasome

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR001457 NADH:ubiquinone/plastoquinone oxidoreductase, chain 6FamilyFamily

Diseases

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Disease IDSourceNameDescription
540000 OMIMMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. The disease is caused by variants affecting the gene represented in this entry.
256000 OMIMLeigh syndrome (LS)An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. 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.
500001 OMIMLeber hereditary optic neuropathy with dystonia (LDYT)Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
NU6M_HUMANSHAN3_HUMANMINT21653829 details
NU6M_HUMANYMEL1_HUMANBioGRID22262461 details