Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of intracellular localizations of expressed fusion proteins in living cells
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria.
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Human ATP11 and ATP12 (ATPAF2) were cloned and shown to be assembly factors for the F1 component of mitochondrial ATP synthase, functioning like their yeast counterparts.
"proteins required for assembly of the"
The molecular chaperone, Atp12p, from Homo sapiens. In vitro studies with purified wild type and mutant (E240K) proteins.
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Human Atp12p binds unassembled F1 alpha subunits and prevents their non-productive aggregation during F1 assembly; purified recombinant HuAtp12p suppresses aggregation of thermally denatured citrate synthase, demonstrating chaperone activity.
"Atp12p binds to unassembled"
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
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A pathogenic mutation in ATP12 (ATPAF2) causes respiratory chain complex V deficiency, the first reported pathogenic mutation in a human nuclear-encoded ATPase assembly gene.
"the first report of a pathogenic mutation in a human nuclear"
Next-generation sequencing to generate interactome datasets.
A proteome-scale map of the human interactome network.
Widespread macromolecular interaction perturbations in human genetic disorders.
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Architecture of the human interactome defines protein communities and disease networks.
CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets.
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Co-expression analysis links ATPAF2 to FMC1 (C7orf55), a co-factor in mitochondrial ATP synthase F1 assembly.
"functional connection between protein C7orf55 (FMC1) and the mitochondrial ATP"
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
A reference map of the human binary protein interactome.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
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ATPAF2 is detected in a high-confidence human mitochondrial proteome, corroborating its mitochondrial localization.
"high-confidence human mitochondrial proteome"
Multimodal cell maps as a foundation for structural and functional genomics.
UniProtKB entry Q8N5M1 (ATPF2_HUMAN)
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ATPAF2 plays a role in assembly of the F1 component of mitochondrial ATP synthase, interacts with an F1 subunit (ATP5F1B) and with FMC1, and localizes to the mitochondrial inner membrane as a peripheral membrane protein.
"Interacts with ATP5F1B; involved in the assembly of the F1"