PET117 (Protein PET117 homolog, mitochondrial) is a small (81 aa) nucleus-encoded mitochondrial assembly chaperone for cytochrome c oxidase (COX; mitochondrial respiratory chain complex IV). It is the conserved human ortholog of yeast PET117 and carries an N-terminal mitochondrial transit peptide (aa 1-22) and a single Pfam PET117 domain (PF15786; InterPro IPR031568), adopting a small coiled-coil fold. PET117 is non-catalytic; it acts at an early step of COX biogenesis to assist assembly of the mtDNA-encoded core subunits, functioning together with the related PET100 chaperone (and MR-1S), and it stabilizes the COX1 translational activator TACO1 to support synthesis of the mtDNA-encoded COX1 core subunit. It localizes to the mitochondrion, associated with the inner membrane where COX assembly occurs. Biallelic loss-of-function variants cause mitochondrial complex IV deficiency, nuclear type 19 (MC4DN19), an autosomal recessive neurodevelopmental disorder with global developmental delay and developmental regression.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0005739 mitochondrion | IBA GO_REF:0000033 | ACCEPT | Summary: Phylogenetic (PAN-GO/IBA) inference that PET117 is active in the mitochondrion. Consistent with its conserved role as a mitochondrial COX assembly chaperone and with multiple experimental localization studies. Accepted; the more specific inner-membrane location is captured in core_functions. Reason: PET117 is a nucleus-encoded mitochondrial protein (predicted transit peptide, aa 1-22) that acts inside the mitochondrion; the IBA is well supported by orthology to yeast PET117 and by experimental human localization data. Supporting Evidence: PMID:22356826 AURKAIP1-, C7orf44-, C12orf62- and PET117-GFP) co-localize with the mitochondrial marker file:human/PET117/PET117-uniprot.txt SUBCELLULAR LOCATION: Mitochondrion |
| GO:0033617 mitochondrial respiratory chain complex IV assembly | IBA GO_REF:0000033 | ACCEPT | Summary: Phylogenetic (IBA) inference of involvement in mitochondrial respiratory chain complex IV (COX) assembly, propagated from yeast PET117 (SGD:S000000860). This is the core biological process of the gene and is independently confirmed by two experimental IDA annotations in human cells. Reason: Human PET117 is the ortholog of yeast PET117, a COX assembly factor; the IBA is corroborated by human experimental evidence and represents the gene's core function. Supporting Evidence: PMID:22356826 PET117Assembly of COXSequencePET117/LOC100303755 PMID:28199844 conserved PET100 and PET117 chaperones to assist COX biogenesis in higher |
| GO:0005739 mitochondrion | IEA GO_REF:0000044 | ACCEPT | Summary: Electronic annotation of mitochondrial localization from the UniProt Swiss-Prot Subcellular Location mapping (SL-0173). Consistent with the curated UniProt subcellular location and with experimental IDA/HTP evidence. Accepted. Reason: The UniProtKB-SubCell mapping correctly reflects the curated Mitochondrion location, which is experimentally supported. Supporting Evidence: file:human/PET117/PET117-uniprot.txt SUBCELLULAR LOCATION: Mitochondrion |
| GO:0033617 mitochondrial respiratory chain complex IV assembly | IDA PMID:28199844 MR-1S Interacts with PET100 and PET117 in Module-Based Assem... | ACCEPT | Summary: Experimental (IDA) annotation from a quantitative-MS dissection of the human COX assembly pathway, which recast assembly as a module-based process and showed PET117 acts together with the conserved PET100 chaperone (and the newly identified MR-1S) to assist COX biogenesis. Directly supports the core complex IV assembly role. Reason: Direct experimental characterization of PET117 as a COX (complex IV) assembly chaperone in human cells; matches the term exactly. Cache is abstract-only, but this is an experimental annotation by a curator with full-text access and the abstract itself supports the assembly role. Supporting Evidence: PMID:28199844 conserved PET100 and PET117 chaperones to assist COX biogenesis in higher |
| GO:0033617 mitochondrial respiratory chain complex IV assembly | IDA PMID:37247699 PET117 assembly factor stabilizes translation activator TACO... | ACCEPT | Summary: Experimental (IDA) annotation showing PET117 is a chaperone involved in complex IV assembly that regulates synthesis of the mtDNA-encoded COX1 core subunit; PET117 depletion reduces the mitochondrial oxygen consumption rate and impairs mitochondrial function, and PET117 stabilizes the COX1 translational activator TACO1. Reason: Direct functional evidence tying PET117 to complex IV assembly and COX1 biogenesis; matches the term. Cache is abstract-only, but the abstract explicitly states the complex IV assembly role and the loss-of-function phenotype. Supporting Evidence: PMID:37247699 PET117, a chaperone protein involved in complex IV assembly, in the regulation PMID:37247699 Depletion of PET117 reduced mitochondrial oxygen consumption rate and PMID:37247699 impaired mitochondrial function |
| GO:0005739 mitochondrion | IDA PMID:37247699 PET117 assembly factor stabilizes translation activator TACO... | ACCEPT | Summary: Experimental (IDA) mitochondrial localization consistent with PET117's role in mitochondrial COX assembly and with independent localization evidence. Accepted. Reason: PET117 acts on the mitochondria-encoded COX1 subunit and the mitochondrial respiratory chain; mitochondrial localization is well supported. Supporting Evidence: PMID:37247699 PET117, a chaperone protein involved in complex IV assembly, in the regulation |
| GO:0005739 mitochondrion | HTP PMID:34800366 Quantitative high-confidence human mitochondrial proteome an... | ACCEPT | Summary: High-throughput (HTP) mitochondrial localization from a quantitative, high-confidence human mitochondrial proteome. PET117 is a member of this curated mitochondrial proteome. Accepted as corroborating the localization; broader than the inner-membrane specificity captured in core_functions. Reason: Proteomic membership in a high-confidence mitochondrial proteome supports the mitochondrial localization, consistent with all other evidence. Supporting Evidence: PMID:34800366 Quantitative high-confidence human mitochondrial proteome and its dynamics |
| GO:0005739 mitochondrion | IDA PMID:22356826 Iterative orthology prediction uncovers new mitochondrial pr... | ACCEPT | Summary: Experimental (IDA) mitochondrial localization from live-cell imaging of GFP-tagged human PET117, which co-localizes with a mitochondrial marker (TMRM) in HEK293 cells. This is the primary experimental basis for the UniProt Mitochondrion location. Reason: Direct imaging evidence for mitochondrial localization of human PET117. Supporting Evidence: PMID:22356826 AURKAIP1-, C7orf44-, C12orf62- and PET117-GFP) co-localize with the mitochondrial marker |
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