Q96DP5 · FMT_HUMAN
- ProteinMethionyl-tRNA formyltransferase, mitochondrial
- GeneMTFMT
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids389 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation.
Catalytic activity
- (6R)-10-formyltetrahydrofolate + L-methionyl-tRNA(fMet) = (6S)-5,6,7,8-tetrahydrofolate + H+ + N-formyl-L-methionyl-tRNA(fMet)This reaction proceeds in the forward direction.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrion | |
Molecular Function | methionyl-tRNA formyltransferase activity | |
Biological Process | conversion of methionyl-tRNA to N-formyl-methionyl-tRNA |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameMethionyl-tRNA formyltransferase, mitochondrial
- EC number
- Short namesMtFMT
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96DP5
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Combined oxidative phosphorylation deficiency 15 (COXPD15)
- Note
- DescriptionAn 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.
- See alsoMIM:614947
Natural variants in COXPD15
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_069303 | 125 | S>L | in COXPD15; loss of methionyl-tRNA formyltransferase activity; dbSNP:rs397514614 | |
VAR_069304 | 209 | S>L | in COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity; dbSNP:rs201431517 |
Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27)
- Note
- DescriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618248
Natural variants in MC1DN27
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_069304 | 209 | S>L | in COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity; dbSNP:rs201431517 | |
VAR_081461 | 332-389 | missing | in MC1DN27 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_059289 | 5 | in dbSNP:rs2946655 | |||
Sequence: V → A | ||||||
Natural variant | VAR_069303 | 125 | in COXPD15; loss of methionyl-tRNA formyltransferase activity; dbSNP:rs397514614 | |||
Sequence: S → L | ||||||
Natural variant | VAR_069304 | 209 | in COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity; dbSNP:rs201431517 | |||
Sequence: S → L | ||||||
Natural variant | VAR_081461 | 332-389 | in MC1DN27 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 517 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, transit peptide.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000010093 | ?-389 | Methionyl-tRNA formyltransferase, mitochondrial | |||
Sequence: MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAREALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDVGVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPKRFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVLKNLPESLSNGRQQPMEGATYAPKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPKLTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYLHPWYQKNSQAQPSQCRFQTLRLPTKKKQKKTVAMQQCIE | ||||||
Transit peptide | 1-? | Mitochondrion |
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Domain
Composed 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.
Sequence similarities
Belongs to the Fmt family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
Q96DP5-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length389
- Mass (Da)43,832
- Last updated2003-01-27 v2
- ChecksumEBBE92142AB954E0
Q96DP5-2
- Name2
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H3BTN9 | H3BTN9_HUMAN | MTFMT | 134 |
Sequence caution
Features
Showing features for alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK055688 EMBL· GenBank· DDBJ | BAB70984.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK301390 EMBL· GenBank· DDBJ | BAH13470.1 EMBL· GenBank· DDBJ | mRNA | ||
AC013553 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC103691 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC016630 EMBL· GenBank· DDBJ | AAH16630.2 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BC033687 EMBL· GenBank· DDBJ | AAH33687.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |