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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leigh syndrome Pathogenic rs201431517 RCV000190888
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 27 Pathogenic; Likely pathogenic rs201431517, rs397514613, rs200286768 RCV000735417
RCV002482939
RCV000033051
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial oxidative phosphorylation disorder Likely pathogenic; Pathogenic rs754222633 RCV000604327
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30361541
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG 21907147, 24461907
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal ganglia disease Pubtator 30911575 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Stem Neoplasms Brain stem neoplasms Pubtator 30911575 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25450481
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 25911677, 28058511
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 25911677 Associate
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 26383014, 29383667, 29528385, 30632052, 31001619, 31617299
★☆☆☆☆
Found in Text Mining only