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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 With Leukodystrophy. Among its related pathways are One carbon pool by folate and Organelle biogenesis and maintenance. Gene Ontology (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

Additional gene information for MTFMT Gene

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

Genomics for MTFMT Gene

GeneHancer (GH) Regulatory Elements for MTFMT Gene

Promoters and enhancers for MTFMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I065028 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556.4 +0.4 393 2 ARID4B SIN3A YBX1 ZNF48 ZNF121 POLR2B GLIS2 ZNF207 ZNF143 ATF7 MTFMT PARP16 INTS14 ZNF609 PDCD7 TRIP4 DENND4A SPG21 GC15P069448
GH15I065515 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.5 -487.2 -487162 3.6 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 DPP8 INTS14 ENSG00000260773 PARP16 SNORD16 SLC24A1 ENSG00000264937 MTFMT PDCD7 RPL35AP32
GH15I065295 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 21.5 -267.7 -267728 4.1 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 GC15P068518 RNU5A-1 PARP16 INTS14 ZNF609 TRIP4 ENSG00000264937 ENSG00000259635 PDCD7 CSNK1G1
GH15I065868 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 17.4 -840.9 -840941 3.7 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TRQ-CTG1-4 RAB11A PDCD7 PARP16 SLC24A1 INTS14 MTFMT UBAP1L TIPIN SNAPC5
GH15I064988 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 +39.2 39231 4.3 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 IRF4 SPG21 CSNK1G1 ZNF609 INTS14 PARP16 SLC24A1 ENSG00000259635 MTFMT PDCD7 RBPMS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTFMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTFMT gene promoter:

Genomic Locations for MTFMT Gene

Genomic Locations for MTFMT Gene
chr15:65,001,512-65,029,639
(GRCh38/hg38)
Size:
28,128 bases
Orientation:
Minus strand
chr15:65,293,850-65,321,977
(GRCh37/hg19)

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

Gene Families for MTFMT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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:

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTFMT gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTFMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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 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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for MTFMT Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTFMT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
Limb:
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MTFMT: view

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 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia MTFMT 33 34
  • 89.37 (n)
cow
(Bos Taurus)
Mammalia MTFMT 33 34
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Mtfmt 33 16 34
  • 81.57 (n)
rat
(Rattus norvegicus)
Mammalia Mtfmt 33
  • 80.78 (n)
oppossum
(Monodelphis domestica)
Mammalia MTFMT 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves MTFMT 33 34
  • 68.05 (n)
lizard
(Anolis carolinensis)
Reptilia MTFMT 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtfmt 33
  • 59.64 (n)
zebrafish
(Danio rerio)
Actinopterygii mtfmt 33 34
  • 58.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1750 34 33
  • 49.01 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000398 33
  • 45.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMT1 34 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons pde194 33
  • 45.75 (n)
rice
(Oryza sativa)
Liliopsida Os01g0687500 33
  • 42.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs199599204 conflicting-interpretations-of-pathogenicity, uncertain-significance, not provided, not specified 65,029,598(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs200286768 pathogenic, Leigh syndrome due to mitochondrial complex I deficiency, Combined oxidative phosphorylation deficiency 15, not provided 65,003,238(-) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained, synonymous_variant
rs201431517 pathogenic, conflicting-interpretations-of-pathogenicity, Combined oxidative phosphorylation deficiency 15, Leigh syndrome due to mitochondrial complex I deficiency, Leigh syndrome, not provided, Abnormal facial shape, Decreased activity of cytochrome C oxidase in muscle tissue, Decreased activity of mitochondrial complex I, Inability to walk by childhood/adolescence, Poor speech, Short stature, Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947] 65,021,533(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs397514613 pathogenic, Combined oxidative phosphorylation deficiency 15 65,026,868(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs397514614 pathogenic, Combined oxidative phosphorylation deficiency 15, Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947] 65,026,876(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for MTFMT Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 15
  • coxpd15
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • ls
tympanic membrane disease
  • disorder of tympanic membrane
focal epithelial hyperplasia
  • heck disease
- 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.

Additional Disease Information for MTFMT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EJ … Mootha VK (Cell metabolism 2011) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure. (PMID: 9614118) Takeuchi N … Watanabe K (The Journal of biological chemistry 1998) 2 3 58

Products for MTFMT Gene

Sources for MTFMT Gene

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