Entity Details

Primary name NU3M_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP03897
EntryNameNU3M_HUMAN
FullNameNADH-ubiquinone oxidoreductase chain 3
TaxID9606
Evidenceevidence at protein level
Length115
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesND3

GO terms

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GOName
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006979 response to oxidative stress
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0009642 response to light intensity
GO:0016021 integral component of membrane
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0071385 cellular response to glucocorticoid stimulus

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR000440 NADH:ubiquinone/plastoquinone oxidoreductase, chain 3FamilyFamily
IPR038430 NADH:ubiquinone oxidoreductase, subunit 3 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
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.
500014 OMIMMitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1)A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule

Interactions

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