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ATP synthase mitochondrial F1 complex assembly factor 2

Atp12p, ATP12
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ATPase, Atp11p, fibrillin-1, CAN, STEP
Papers on Atp12p
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Ribes et al., Barcelona, Spain. In Mol Genet Metab, 2013
Causative mutations in TAZ, OPA3, DNAJC19, ATP12, ATP5E, and TMEM70 have been identified.
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
GeneRIF
Prince et al., Riverside, United States. In Hum Mol Genet, 2010
Two possible dementia susceptibility genes including ATPAF2 and TOM1L2 near SREBF1 locus were identified.
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
GeneRIF
Ackerman et al., Brussels, Belgium. In J Biol Chem, 2010
Data show that wild type human Atp12p rescues the respiratory defect of a yeast ATP12 deletion mutant (Deltaatp12).
F1-dependent translation of mitochondrially encoded Atp6p and Atp8p subunits of yeast ATP synthase.
Tzagoloff et al., New York City, United States. In Proc Natl Acad Sci U S A, 2009
Mutants lacking the alpha or beta subunits of F(1), or the Atp11p and Atp12p chaperones that promote F(1) assembly, have normal levels of the bicistronic ATP8/ATP6 mRNAs but fail to synthesize Atp6p and Atp8p.
Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase.
Barrientos et al., Miami, United States. In Biochim Biophys Acta, 2009
Similar results were obtained with oligomycin-treated and ATP12-deficient human fibroblasts respectively.
Chaperones of F1-ATPase.
Ackerman et al., Detroit, United States. In J Biol Chem, 2009
The assembly of this structure requires two specialized chaperones, Atp11p and Atp12p, that bind transiently to beta and alpha.
Mitochondrial diseases and genetic defects of ATP synthase.
Review
Jesina et al., Praha, Czech Republic. In Biochim Biophys Acta, 2006
The primary genetic defects have so far been localized in mtDNA ATP6 gene and nuclear ATP12 gene, however, involvement of other nuclear genes is highly probable.
Assembly factors of F1FO-ATP synthase across genomes.
Houstek et al., Praha, Czech Republic. In Proteins, 2005
Work with respiration-deficient strains of Saccharomyces cerevisiae has provided evidence that assembly of the mitochondrial ATP synthase is dependent on proteins that serve substrate-specific, chaperone-type functions: Atp10p, Atp11p, Atp12p, Atp22p, and Fmc1p.
The molecular chaperone, Atp12p, from Homo sapiens. In vitro studies with purified wild type and mutant (E240K) proteins.
Ackerman et al., Detroit, United States. In J Biol Chem, 2004
Work in Saccharomyces cerevisiae has shown that Atp12p binds to unassembled alpha subunits of F(1) and in so doing prevents the alpha subunit from associating with itself in non-productive complexes during assembly of the F(1) moiety of the mitochondrial ATP synthase.
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
Van Coster et al., Brussels, Belgium. In J Med Genet, 2004
Mutation analysis of the complete coding regions at the cDNA level of the nuclear ATP11, ATP12, ATPalpha, ATPbeta and ATPgamma genes and the mitochondrial MTATP6 and MTAT8 genes was undertaken in two unrelated patients.
Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.
Houstek et al., Praha, Czech Republic. In Febs Lett, 2003
Atp11p (Atpaf1p; F(1)-ATPase assembly factor 1) and Atp12p (Atpaf2p; F(1)-ATPase assembly factor 2) are proteins required for the assembly of beta (F(1)-beta) and alpha (F(1)-alpha) subunits into the mitochondrial ATPase.
Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria.
Ackerman, Detroit, United States. In Biochim Biophys Acta, 2002
Our work, which employs the yeast Saccharomyces cerevisiae as a model system for studies of mitochondrial function, has provided evidence that assembly of the mitochondrial alpha and beta subunits into the F(1) oligomer requires two molecular chaperone proteins called Atp11p and Atp12p.
Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria.
Ackerman et al., Detroit, United States. In J Biol Chem, 2001
Atp11p and Atp12p were first described as proteins required for assembly of the F(1) component of the mitochondrial ATP synthase in Saccharomyces cerevisiae (Ackerman, S. H., and Tzagoloff, A. (1990) Proc.
Identification of a nuclear gene (FMC1) required for the assembly/stability of yeast mitochondrial F(1)-ATPase in heat stress conditions.
di Rago et al., Bordeaux, France. In J Biol Chem, 2001
Identical perturbations were reported previously for yeast cells lacking either Atp12p or Atp11p, two specific assembly factors of the F(1) sector (Ackerman, S. H., and Tzagoloff, A. (1990) Proc.
The alpha-subunit of the mitochondrial F(1) ATPase interacts directly with the assembly factor Atp12p.
Ackerman et al., Detroit, United States. In Embo J, 2000
The Atp12p protein of Saccharomyces cerevisiae is required for the assembly of the F(1) component of the mitochondrial F(1)F(0) ATP synthase.
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