Gene Gene information from NCBI Gene database.
Entrez ID 123263
Gene name Mitochondrial methionyl-tRNA formyltransferase
Gene symbol MTFMT
Synonyms (NCBI Gene)
COXPD15FMT1MC1DN27
Chromosome 15
Chromosome location 15q22.31
Summary The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
SNPs SNP information provided by dbSNP.
16
SNP ID Visualize variation Clinical significance Consequence
rs199599204 G>A,C,T Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs200286768 G>A,T Pathogenic Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs201431517 G>A Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant, intron variant
rs372732702 C>A,T Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs397514613 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
659
miRTarBase ID miRNA Experiments Reference
MIRT020872 hsa-miR-155-5p Proteomics 18668040
MIRT036679 hsa-miR-935 CLASH 23622248
MIRT696763 hsa-miR-3974 HITS-CLIP 23313552
MIRT696762 hsa-miR-624-3p HITS-CLIP 23313552
MIRT696761 hsa-miR-4293 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004479 Function Methionyl-tRNA formyltransferase activity IBA
GO:0004479 Function Methionyl-tRNA formyltransferase activity IDA 25288793
GO:0004479 Function Methionyl-tRNA formyltransferase activity IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611766 29666 ENSG00000103707
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DP5
Protein name Methionyl-tRNA formyltransferase, mitochondrial (MtFMT) (EC 2.1.2.9)
Protein function Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00551 Formyl_trans_N 97 220 Formyl transferase Domain
PF02911 Formyl_trans_C 243 350 Formyl transferase, C-terminal domain Domain
Sequence
MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAR
EALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDV
GVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPK
RFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVL
KNLPESLSNGRQQPMEGATY
APKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPK
LTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYL
HPWYQKNSQA
QPSQCRFQTLRLPTKKKQKKTVAMQQCIE
Sequence length 389
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Aminoacyl-tRNA biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
72
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation defect type 15 Pathogenic; Likely pathogenic rs587777244, rs771725115, rs587777417, rs587777418, rs587777419, rs863224897, rs1321967748, rs777725264, rs1555404423, rs201431517, rs397514613, rs397514614, rs200286768 RCV000106391
RCV001813904
RCV000119835
RCV000119836
RCV000119837
RCV000196317
RCV004596572
RCV000499928
RCV000578227
RCV000033047
RCV000033049
RCV000033050
RCV000106390
Leigh syndrome Pathogenic rs201431517 RCV000190888
Mitochondrial complex I deficiency, nuclear type 27 Pathogenic; Likely pathogenic rs201431517, rs397514613, rs200286768 RCV000735417
RCV002482939
RCV000033051
Mitochondrial oxidative phosphorylation disorder Likely pathogenic; Pathogenic rs754222633 RCV000604327
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs866953579, rs200927452 RCV005911515
RCV005893683
Cervical cancer Benign; Uncertain significance rs866953579, rs758882234 RCV005911516
RCV005931129
Cholangiocarcinoma Likely benign rs200927452 RCV005893685
Clear cell carcinoma of kidney Likely benign rs372515409 RCV005870789
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Basal Ganglia Diseases Associate 30911575
Brain Stem Neoplasms Associate 30911575
Cardiomyopathies Associate 25911677
Colorectal Neoplasms Associate 36299603
CoQ responsive OXPHOS deficiency Associate 21907147
Leigh Disease Associate 21907147, 23499752, 25911677, 30911575
Leukoencephalopathies Associate 30911575
Mitochondrial Diseases Associate 23499752, 25735936, 30911575