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MGP006441

UniProt Annotations

Entry Information
Gene Namemitochondrial methionyl-tRNA formyltransferase
Protein EntryFMT_HUMAN
UniProt IDQ96DP5
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96DP5-1; Sequence=Displayed; Name=2; IsoId=Q96DP5-2; Sequence=VSP_057059, VSP_057060; Note=No experimental confirmation available.;
Catalytic Activity10-formyltetrahydrofolate + L-methionyl- tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet).
DiseaseCombined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947]: An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. {ECO:0000269|PubMed:21907147}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLeigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:22499348}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainComposed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C- terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction.
FunctionFormylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity). {ECO:0000250}.
Sequence CautionSequence=AAH16630.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH33687.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB70984.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the Fmt family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000250}.
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