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Aliases for MTFMT Gene

Aliases for MTFMT Gene

  • Mitochondrial Methionyl-TRNA Formyltransferase 2 3 5
  • FMT1 3 4
  • Methionyl-TRNA Formyltransferase, Mitochondrial 3
  • EC 2.1.2.9 4
  • COXPD15 3
  • MtFMT 4
  • FMT 4

External Ids for MTFMT Gene

Previous GeneCards Identifiers for MTFMT Gene

  • GC15M063082
  • GC15M065293
  • GC15M042118

Summaries for MTFMT Gene

Entrez Gene Summary for MTFMT 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]

GeneCards Summary for MTFMT Gene

MTFMT (Mitochondrial Methionyl-TRNA Formyltransferase) is a Protein Coding gene. Diseases associated with MTFMT include Combined Oxidative Phosphorylation Deficiency 15 and Leigh Syndrome. Among its related pathways are Organelle biogenesis and maintenance and tRNA Aminoacylation. GO annotations related to this gene include hydroxymethyl-, formyl- and related transferase activity and methionyl-tRNA formyltransferase activity.

UniProtKB/Swiss-Prot for MTFMT Gene

  • Formylates 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).

Gene Wiki entry for MTFMT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTFMT Gene

Genomics for MTFMT Gene

Regulatory Elements for MTFMT Gene

Enhancers for MTFMT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F065515 0.8 ENCODE 37 -487.2 -487162 3.6 PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 MTFMT SLC24A1 SNORD16 ENSG00000260773 ENSG00000264937 ENSG00000259346 RNU5B-1 RNU5A-1 HNRNPA1P44 ENSG00000239465
GH15F065295 1.1 FANTOM5 ENCODE 30.8 -267.7 -267728 4.1 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF609 MTFMT TRIP4 ENSG00000264937 PARP16 ENSG00000259635 SLC24A1 HACD3 SPG21 CILP
GH15F065318 1.2 Ensembl ENCODE 19.6 -289.4 -289406 0.6 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF609 TRIP4 ENSG00000264937 ENSG00000259635 MTFMT SLC24A1 CILP RNU5B-1 ENSG00000259346 RNU5A-1
GH15F065609 1.2 ENCODE 19.6 -581.8 -581774 3.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SNORD16 ENSG00000260773 ENSG00000264937 SLC24A1 ENSG00000259635 RPL35AP32 MTFMT CILP HNRNPA1P44 RNU5B-1
GH15F065085 1.9 VISTA FANTOM5 Ensembl ENCODE 17.6 -58.4 -58446 5.5 PKNOX1 ZFP64 DMAP1 FEZF1 ZNF48 YY1 ZNF121 GLIS2 ZNF263 SP3 MTFMT ZNF609 UBAP1L RASL12 LOC105370862 KBTBD13
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MTFMT on UCSC Golden Path with GeneCards custom track

Promoters for MTFMT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127498 239 1600 ZFP64 ARID4B SIN3A YBX1 ZNF48 ZNF121 GLIS2 ZNF207 ZNF263 SP3

Genomic Location for MTFMT Gene

Chromosome:
15
Start:
65,001,512 bp from pter
End:
65,029,639 bp from pter
Size:
28,128 bases
Orientation:
Minus strand

Genomic View for MTFMT Gene

Genes around MTFMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTFMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTFMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTFMT Gene

Proteins for MTFMT Gene

  • Protein details for MTFMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DP5-FMT_HUMAN
    Recommended name:
    Methionyl-tRNA formyltransferase, mitochondrial
    Protein Accession:
    Q96DP5
    Secondary Accessions:
    • B7Z734

    Protein attributes for MTFMT Gene

    Size:
    389 amino acids
    Molecular mass:
    43832 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=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};

    Alternative splice isoforms for MTFMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTFMT Gene

Post-translational modifications for MTFMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTFMT Gene

No data available for DME Specific Peptides for MTFMT Gene

Domains & Families for MTFMT Gene

Protein Domains for MTFMT Gene

Graphical View of Domain Structure for InterPro Entry

Q96DP5

UniProtKB/Swiss-Prot:

FMT_HUMAN :
  • 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.
  • Belongs to the Fmt family.
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.
Family:
  • Belongs to the Fmt family.
genes like me logo Genes that share domains with MTFMT: view

No data available for Gene Families for MTFMT Gene

Function for MTFMT Gene

Molecular function for MTFMT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
10-formyltetrahydrofolate + L-methionyl-tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet).
UniProtKB/Swiss-Prot Function:
Formylates 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).

Enzyme Numbers (IUBMB) for MTFMT Gene

Gene Ontology (GO) - Molecular Function for MTFMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004479 methionyl-tRNA formyltransferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0016742 hydroxymethyl-, formyl- and related transferase activity IEA --
genes like me logo Genes that share ontologies with MTFMT: view
genes like me logo Genes that share phenotypes with MTFMT: view

Human Phenotype Ontology for MTFMT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTFMT Gene

MGI Knock Outs for MTFMT:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MTFMT Gene

Localization for MTFMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTFMT Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTFMT Gene COMPARTMENTS Subcellular localization image for MTFMT gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for MTFMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA --
genes like me logo Genes that share ontologies with MTFMT: view

Pathways & Interactions for MTFMT Gene

genes like me logo Genes that share pathways with MTFMT: view

Pathways by source for MTFMT Gene

1 GeneGo (Thomson Reuters) pathway for MTFMT Gene

Interacting Proteins for MTFMT Gene

Gene Ontology (GO) - Biological Process for MTFMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation IEA --
GO:0009058 biosynthetic process IEA --
GO:0071951 conversion of methionyl-tRNA to N-formyl-methionyl-tRNA IEA --
genes like me logo Genes that share ontologies with MTFMT: view

No data available for SIGNOR curated interactions for MTFMT Gene

Drugs & Compounds for MTFMT Gene

(1) Drugs for MTFMT Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrofolic acid Approved Nutra Target, cofactor 0

(1) Additional Compounds for MTFMT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
genes like me logo Genes that share compounds with MTFMT: view

Transcripts for MTFMT Gene

Unigene Clusters for MTFMT Gene

Mitochondrial methionyl-tRNA formyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTFMT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: - - -
SP3: - - -
SP4:

Relevant External Links for MTFMT Gene

GeneLoc Exon Structure for
MTFMT
ECgene alternative splicing isoforms for
MTFMT

Expression for MTFMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTFMT Gene

Protein differential expression in normal tissues from HIPED for MTFMT Gene

This gene is overexpressed in Heart (30.7), Lung (10.6), and Adipocyte (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTFMT Gene



NURSA nuclear receptor signaling pathways regulating expression of MTFMT Gene:

MTFMT

SOURCE GeneReport for Unigene cluster for MTFMT Gene:

Hs.531615
genes like me logo Genes that share expression patterns with MTFMT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MTFMT Gene

Orthologs for MTFMT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTFMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTFMT 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia MTFMT 34 35
  • 89.37 (n)
cow
(Bos Taurus)
Mammalia MTFMT 34 35
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Mtfmt 34 16 35
  • 81.57 (n)
rat
(Rattus norvegicus)
Mammalia Mtfmt 34
  • 80.78 (n)
oppossum
(Monodelphis domestica)
Mammalia MTFMT 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 66 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves MTFMT 34 35
  • 68.05 (n)
lizard
(Anolis carolinensis)
Reptilia MTFMT 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtfmt 34
  • 59.64 (n)
zebrafish
(Danio rerio)
Actinopterygii mtfmt 34 35
  • 58.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1750 34 35
  • 49.01 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000398 34
  • 45.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMT1 35 37
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons pde194 34
  • 45.75 (n)
rice
(Oryza sativa)
Liliopsida Os01g0687500 34
  • 42.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToOne
Species where no ortholog for MTFMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTFMT Gene

ENSEMBL:
Gene Tree for MTFMT (if available)
TreeFam:
Gene Tree for MTFMT (if available)

Paralogs for MTFMT Gene

No data available for Paralogs for MTFMT Gene

Variants for MTFMT Gene

Sequence variations from dbSNP and Humsavar for MTFMT Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs201431517 Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947], Pathogenic 65,021,533(+) GTCTT(A/G)ACAAC intron-variant, reference, missense
rs397514614 Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947], Pathogenic 65,026,876(-) GGCTT(C/T)GTTTG nc-transcript-variant, reference, missense
rs200286768 Pathogenic 65,003,238(+) TGATC(A/G/T)AACAC reference, synonymous-codon, stop-gained
rs397514613 Pathogenic 65,026,868(-) TTGGC(C/T)GACTT nc-transcript-variant, reference, stop-gained
rs587777244 Pathogenic 65,023,762(+) ATCTC(A/G)GGAGG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MTFMT Gene

Variant ID Type Subtype PubMed ID
esv2763104 CNV gain 21179565
nsv1138380 CNV deletion 24896259

Variation tolerance for MTFMT Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTFMT Gene

Human Gene Mutation Database (HGMD)
MTFMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTFMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTFMT Gene

Disorders for MTFMT Gene

MalaCards: The human disease database

(11) MalaCards diseases for MTFMT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 15
  • combined oxidative phosphorylation defect type 15
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
tympanic membrane disease
  • disorder of tympanic membrane
external ear disease
  • preauricular cyst
- elite association - COSMIC cancer census association via MalaCards
Search MTFMT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FMT_HUMAN
  • Combined 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.
  • Leigh 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.

Relevant External Links for MTFMT

Genetic Association Database (GAD)
MTFMT
Human Genome Epidemiology (HuGE) Navigator
MTFMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTFMT
genes like me logo Genes that share disorders with MTFMT: view

No data available for Genatlas for MTFMT Gene

Publications for MTFMT Gene

  1. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. (PMID: 21907147) Tucker E.J. … Mootha V.K. (Cell Metab. 2011) 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure. (PMID: 9614118) Takeuchi N. … Watanabe K. (J. Biol. Chem. 1998) 2 3 64

Products for MTFMT Gene

Sources for MTFMT Gene

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