GFM1 notes

Deep research

GFM1-deep-research-claude-code.md (claude_code provider) completed in about 37 s with only
2 web searches and 6 citations (MedlinePlus, GeneCards, PMC copies of Tsuboi 2009 and Smits 2011,
a bioRxiv preprint). The report itself says most of its content is from background knowledge.
It was used only as a list of leads; every claim below was checked against cached publications.

Function

• EF-G1mt is the mitochondrial translocase. In human mitochondria the two functions of bacterial
  EF-G are split: PMID:19716793.
• Structures of the human 55S mitoribosome with EF-G1mt in three states, including a
  post-translocational one PMID:32737313. GTPase centre:
  PMID:32737313.
• Localisation: mitochondrial matrix, N-terminal transit peptide 1-36 (UniProt, HAMAP rule).

Disease

• COXPD1 (MIM:609060): first described in siblings with progressive hepatoencephalopathy
  PMID:15537906.
• Leigh syndrome patient, complementation in yeast and mammalian cells PMID:17160893.
• R250W in subdomain G'; fibroblast but not muscle OXPHOS defect; rescued by wild-type GFM1
  PMID:21119709.
• Gfm1 R671C mouse model PMID:34919756.

Annotation decisions

• Protein binding (TRIM63 Y2H, influenza NS-segment AP-MS): removed as uninformative.
• Generic RNA binding (mRNA interactome capture): over-annotation.
• Generic translation and translational elongation IEAs: modified to GO:0070125 mitochondrial
  translational elongation.
• No annotation to ribosome disassembly / recycling: that is GFM2's role per PMID:19716793.