Entity Details

Primary name NDUAD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P0J0
EntryNameNDUAD_HUMAN
FullNameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
TaxID9606
Evidenceevidence at protein level
Length144
SequenceStatuscomplete
DateCreated2002-03-27
DateModified2021-06-02

Ontological Relatives

GenesNDUFA13

GO terms

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GOName
GO:0003954 NADH dehydrogenase activity
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respirasome
GO:0005747 mitochondrial respiratory chain complex I
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0010952 positive regulation of peptidase activity
GO:0016021 integral component of membrane
GO:0016032 viral process
GO:0030308 negative regulation of cell growth
GO:0031966 mitochondrial membrane
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0035458 cellular response to interferon-beta
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045039 protein insertion into mitochondrial inner membrane
GO:0045732 positive regulation of protein catabolic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0071300 cellular response to retinoic acid
GO:0072593 reactive oxygen species metabolic process
GO:0097190 apoptotic signaling pathway
GO:2001243 negative regulation of intrinsic apoptotic signaling pathway

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane
Nucleus

Domains

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DomainNameCategoryType
IPR009346 GRIM-19FamilyFamily

Diseases

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Disease IDSourceNameDescription
618249 OMIMMitochondrial complex I deficiency, nuclear type 28 (MC1DN28)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. MC1DN28 transmission pattern is consistent with autosomal recessive inheritance. The disease may be caused by variants affecting the gene represented in this entry.
607464 OMIMHurthle cell thyroid carcinoma (HCTC)A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule