FIG4

Saccharomyces cerevisiae

Phosphatidylinositol 3,5-bisphosphate (PtdIns[3,5]P) phosphatase; required for efficient mating and response to osmotic shock; physically associates with and regulated by Vac14p; contains a SAC1-like domain; homologous to human FIG4, which is associated with CMT4J, a form of Charcot-Marie-Tooth disorder

TYS1

Saccharomyces cerevisiae

Cytoplasmic tyrosyl-tRNA synthetase; required for cytoplasmic protein synthesis; interacts with positions 34 and 35 of the tRNATyr anticodon; mutations in human ortholog YARS are associated with Charcot-Marie-Tooth (CMT) neuropathies; human ortholog YARS functionally complements the heat sensitivity of a ts allele; protein abundance increases in response to DNA replication stress

ALA1

Saccharomyces cerevisiae

Cytoplasmic and mitochondrial alanyl-tRNA synthetase; required for protein synthesis; point mutation (cdc64-1 allele) causes cell cycle arrest at G1; lethality of null mutation is functionally complemented by human homolog AARS; mutations in human homolog AARS are associated with autoimmune disease polymyositis/dermatomyositis and with hereditary peripheral neuropathy, Charcot-Marie-Tooth (CMT) disease

GRS1

Saccharomyces cerevisiae

Cytoplasmic and mitochondrial glycyl-tRNA synthase; ligates glycine to the cognate anticodon-bearing tRNA; transcription termination factor that may interact with the 3'-end of pre-mRNA to promote 3'-end formation; GRS1 has a paralog, GRS2, that arose from the whole genome duplication; human homolog GARS implicated in Charcot-Marie-Tooth disease, can complement yeast null mutant

PRS1

Saccharomyces cerevisiae

5-phospho-ribosyl-1(alpha)-pyrophosphate synthetase; synthesizes PRPP, which is required for nucleotide, histidine, and tryptophan biosynthesis; plays a key role in cell wall integrity (CWI) pathway; one of five related enzymes, which are active as heteromultimeric complexes; missense mutations in human homolog PRPS1 are associated with neuropathic Arts syndrome and Charcot-Marie Tooth (CMTX5) disease

MES1

Saccharomyces cerevisiae

Methionyl-tRNA synthetase; forms a complex with Gus1p, a glutamyl-tRNA synthetase, and Arc1p, which increases the catalytic efficiency of both synthetases; involved in the nuclear export of tRNAs; mutations in human ortholog MARS is associated with pediatric pulmonary alveolar proteinosis, interstitial lung and liver disease, and Charcot-Marie-Tooth disease; human MARS gene can complement the yeast null mutant

ATP6

Saccharomyces cerevisiae

Subunit a of the F0 sector of mitochondrial F1F0 ATP synthase; mitochondrially encoded; translation is specifically activated by Atp22p; ATP6 and ATP8 mRNAs are not translated in the absence of the F1 sector of ATPase; mutations in human ortholog MT-ATP6 are associated with neurodegenerative disorders such as Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot-Marie-Tooth (CMT), and ataxia telangiectasia