NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Function

Acts as a molecular chaperone for mitochondrial complex I assembly. 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. Is involved in the initial steps of cilia formation, including removal of CP110 from the mother centrioles, docking of membrane vesicles to the mother centrioles, and establishment of the transition zone.

Classification

Family (Pfam)

PF05071 NDUFA12

InterPro

ComplexI_NDUFA12, NDUFA12

Functional cluster

Transcriptional Regulators & Metal Chaperones

Gene Ontology · 6

• GO:0005743 mitochondrial inner membrane
• GO:0005739 mitochondrion
• GO:0045271 respiratory chain complex I
• GO:0044877 protein-containing complex binding
• GO:0060271 cilium assembly
• GO:0032981 mitochondrial respiratory chain complex I assembly

Disease associations

• mitochondrial complex I deficiency, nuclear type 10 MONDO:0032616

Drugs targeting this protein · 2

• METFORMIN HYDROCHLORIDE inhibitor
• ME-344 inhibitor

Related proteins · sequence + function similarity

• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 0.98
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 0.95
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit N7BM 0.66
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.66
• Probable NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.65
• NADH-ubiquinone oxidoreductase assembly factor N7BML 0.65
• Uncharacterized protein RP725 0.62
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.62
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.61
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.61
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.61
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 0.61

Co-cited proteins · studied together in the literature

• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 1 shared papers
• LisH domain-containing protein ARMC9 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 1 shared papers
• Distal membrane-arm assembly complex protein 1 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 1 shared papers
• NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial 1 shared papers
• NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial 1 shared papers
• NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial 1 shared papers

Literature · 12 cited papers

• Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2. J. Clin. Invest. · 2024
• Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature · 2016
• N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
• Toward a comprehensive characterization of a human cancer cell phosphoproteome. J. Proteome Res. · 2013
• Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
• Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics · 2010
• Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. Hum. Mutat. · 2009
• The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Mol. Genet. Metab. · 2008
• A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J. Clin. Invest. · 2005
• A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. J. Biol. Chem. · 2005
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
• Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004