MTFMT
Methionyl-tRNA formyltransferase, mitochondrial
Also known as: FMT_HUMAN, FMT1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96DP5
- Gene
- MTFMT
- Ensembl
- ENSG00000103707
- Chromosome
- 15
- Canonical length
- 389 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
Canonical amino-acid sequenceUniProt
389 residues, UniProt reviewed canonical sequence.
>Q96DP5|MTFMT
1 MRVLVRRCWG PPLAHGARRG RPSPQWRALA RLGWEDCRDS RVREKPPWRV LFFGTDQFAR
61 EALRALHAAR ENKEEELIDK LEVVTMPSPS PKGLPVKQYA VQSQLPVYEW PDVGSGEYDV
121 GVVASFGRLL NEALILKFPY GILNVHPSCL PRWRGPAPVI HTVLHGDTVT GVTIMQIRPK
181 RFDVGPILKQ ETVPVPPKST AKELEAVLSR LGANMLISVL KNLPESLSNG RQQPMEGATY
241 APKISAGTSC IKWEEQTSEQ IFRLYRAIGN IIPLQTLWMA NTIKLLDLVE VNSSVLADPK
301 LTGQALIPGS VIYHKQSQIL LVYCKDGWIG VRSVMLKKSL TATDFYNGYL HPWYQKNSQA
361 QPSQCRFQTL RLPTKKKQKK TVAMQQCIELocalizationUniProt · AlphaFold · HPA
Whether an antibody against MTFMT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 4.2 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 4.2 nTPM
- cerebellum: 3.8 nTPM
- liver: 3.5 nTPM
- skeletal muscle: 3 nTPM
- basal ganglia: 2.7 nTPM
- prostate: 2.7 nTPM
Single-cell type
- myonuclei: 101 nCPM
- cardiomyocytes: 74 nCPM
- leydig cells: 61 nCPM
- brain excitatory neurons: 60 nCPM
- brain inhibitory neurons: 58 nCPM
- myosatellite cells: 57 nCPM
Immune cell
- neutrophil: 16 nTPM
- plasmacytoid DC: 9.8 nTPM
- myeloid DC: 5.9 nTPM
- naive CD8 T-cell: 5.4 nTPM
- T-reg: 5.4 nTPM
- memory CD8 T-cell: 5.1 nTPM
Brain region
- choroid plexus: 11 nTPM
- cerebellum: 10 nTPM
- hypothalamus: 10 nTPM
- basal ganglia: 8.9 nTPM
- cerebral cortex: 8.9 nTPM
- hippocampal formation: 8.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MTFMT.
Disease | AllUniProt
Conditions MTFMT is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 15 (COXPD15) MIM:614947
- Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27) MIM:618248
Disease | GeneticClinVar
34 pathogenic / likely-pathogenic of 313 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Combined oxidative phosphorylation defect type 15
- Mitochondrial complex I deficiency, nuclear type 27
- MTFMT-Related Disorders
- Inborn genetic diseases
- MTFMT-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.01
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.46
- DepMap mean gene effect
- -0.28
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- conversion of methionyl-tRNA to N-formyl-methionyl-tRNA
Molecular functions
- methionyl-tRNA formyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Formyl transferase, N-terminal
- Formyl transferase, C-terminal
- Formyl transferase-like, C-terminal domain superfamily
- Formyl transferase, N-terminal domain superfamily
- Formyl transferase
- Formyl transferase, C-terminal domain
- Methionyl-tRNA formyltransferase
- Methionyl-tRNA formyltransferase, N-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MTFMT as an antibody target. Whether an autoantibody or antibody against MTFMT could matter depends on whether native MTFMT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MTFMT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MTFMT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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