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 immunofluorescence data
C6ORF66 is an assembly factor of mitochondrial complex I.
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A conserved-residue missense mutation in C6ORF66/NDUFAF4 causes isolated complex I deficiency; patient muscle shows reduced C6ORF66 protein and reduced fully assembled complex I, and wild-type cDNA restores complex I activity, establishing NDUFAF4 as a mitochondrial complex I assembly factor.
"Transfection of the patients' fibroblasts with wild-type C6ORF66 cDNA restored complex I activity. These data suggest that C6ORF66 is an assembly factor of complex I."
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
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NDUFAF3 is a genuine complex I assembly protein that interacts with complex I subunits and tightly interacts with NDUFAF4, linking the two proteins in the complex I assembly process.
"NDUFAF3 tightly interacts with NDUFAF4 (C6ORF66), a protein previously implicated in complex I deficiency"
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
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Blue-native/LC-MS profiling co-migrated C6ORF66 (NDUFAF4) and the novel C3ORF60 (NDUFAF3) with complex I subunits, implicating both in complex I biogenesis.
"the recently implicated chaperone C6ORF66 and a novel candidate, C3ORF60"
TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
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Interaction proteomics of complex I assembly factors places NDUFAF4 within the MCIA-associated CI assembly machinery alongside TIMMDC1.
"TIMMDC1, a predicted 4-pass membrane protein, reciprocally associated with multiple members of the MCIA CI assembly factor complex and core CI subunits"
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.
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Affinity-enrichment MS mapping of mitochondrial protein interactions situates NDUFAF4 in a respiratory-chain (complex I assembly) interaction context.
"Our data connect MXPs to diverse mitochondrial processes, including multiple aspects of respiratory chain function."
A reference map of the human binary protein interactome.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
The host cellular protein Ndufaf4 interacts with the vesicular stomatitis virus M protein and affects viral propagation.
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NDUFAF4 binds the VSV matrix (M) protein; its overexpression inhibits and knockdown promotes VSV propagation, independent of the type I IFN response, indicating a non-core antiviral/host-restriction activity.
"Overexpression of Ndufaf4 inhibited VSV propagation, and knockdown of Ndufaf4 by short hairpin RNA (shRNA) markedly promoted VSV replication."
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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NDUFAF4 is detected in a high-confidence quantitative human mitochondrial proteome, corroborating its mitochondrial localization.
"Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context."
Multimodal cell maps as a foundation for structural and functional genomics.
Intermediate 1 binds HP subcomplex to form Intermediate 2
Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex
The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
ND4, ND5 bind the 550kDa complex to form the 815kDa complex
The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex
IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1