NDUFA13

This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined.

Full Name

NADH:Ubiquinone Oxidoreductase Subunit A13

Function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371).

Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371).

Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091).

Biological Process

Aerobic respiration Source: ComplexPortal
Apoptotic signaling pathway Source: UniProtKB
Cellular response to interferon-beta Source: ParkinsonsUK-UCL
Cellular response to retinoic acid Source: ParkinsonsUK-UCL
Electron transport chain Source: GOC
Extrinsic apoptotic signaling pathway Source: Ensembl
Mitochondrial ATP synthesis coupled proton transport Source: ComplexPortal
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Negative regulation of cell growth Source: UniProtKB
Negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: ParkinsonsUK-UCL
Positive regulation of peptidase activity Source: ParkinsonsUK-UCL
Positive regulation of protein catabolic process Source: ParkinsonsUK-UCL
Protein insertion into mitochondrial inner membrane Source: UniProtKB
Reactive oxygen species metabolic process Source: UniProtKB

Cellular Location

Mitochondrion
Mitochondrion inner membrane
Nucleus
Note: Localizes mainly in the mitochondrion (PubMed:12628925). May be translocated into the nucleus upon IFN/RA treatment.

Involvement in disease

Hurthle 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.
Mitochondrial 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.

Topology

Helical: 30-51