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Aliases for MTFMT Gene

Aliases for MTFMT Gene

  • Mitochondrial Methionyl-TRNA Formyltransferase 2 3
  • FMT1 3 4
  • 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 tympanic membrane disease. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for MTFMT Gene at MOPED

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:0003824 catalytic activity --
GO:0004479 methionyl-tRNA formyltransferase activity IBA --
GO:0016742 hydroxymethyl-, formyl- and related transferase activity --
genes like me logo Genes that share ontologies with MTFMT: view
genes like me logo Genes that share phenotypes with MTFMT: view

Animal Model Products

No data available for Animal Models , 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 3
chloroplast 2
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MTFMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion 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:0006413 translational initiation --
GO:0006996 organelle organization TAS --
GO:0009058 biosynthetic process --
GO:0032543 mitochondrial translation TAS --
GO:0070124 mitochondrial translational initiation TAS --
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: HMDB and DrugBank

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

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTFMT

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 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, MOPED, and MaxQB for MTFMT Gene



SOURCE GeneReport for Unigene cluster for MTFMT Gene Hs.531615

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

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MTFMT 35
  • 88.28 (n)
  • 87.5 (a)
MTFMT 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTFMT 35
  • 89.37 (n)
  • 89.2 (a)
MTFMT 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtfmt 35
  • 81.57 (n)
  • 81.22 (a)
Mtfmt 16
Mtfmt 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTFMT 35
  • 99.31 (n)
  • 99.74 (a)
MTFMT 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtfmt 35
  • 80.78 (n)
  • 81.48 (a)
oppossum
(Monodelphis domestica)
Mammalia MTFMT 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves MTFMT 35
  • 68.05 (n)
  • 64.79 (a)
MTFMT 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTFMT 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtfmt 35
  • 59.64 (n)
  • 60.67 (a)
zebrafish
(Danio rerio)
Actinopterygii mtfmt 35
  • 58.46 (n)
  • 54.95 (a)
mtfmt 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000398 35
  • 45.51 (n)
  • 40.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1750 35
  • 49.01 (n)
  • 39.37 (a)
CG1750 36
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMT1 36
  • 22 (a)
OneToOne
FMT1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons pde194 35
  • 45.75 (n)
  • 30.88 (a)
rice
(Oryza sativa)
Liliopsida Os01g0687500 35
  • 42.4 (n)
  • 27.21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for MTFMT:
  • 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 MAF
rs2414866 -- 65,002,774(+) cctga(A/C)caaca utr-variant-3-prime
rs2414867 -- 65,006,437(+) agtgg(C/T)gtgat intron-variant
rs2414868 -- 65,025,620(+) TGGGA(C/T)GTAAG intron-variant
rs2414869 -- 65,030,528(+) ACTTG(C/T)CTGCA upstream-variant-2KB
rs2899706 -- 65,025,350(+) tatga(C/T)agcaa intron-variant

Variation tolerance for MTFMT Gene

Residual Variation Intolerance Score: 81.26% 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

HapMap Linkage Disequilibrium report
MTFMT
Human Gene Mutation Database (HGMD)
MTFMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MTFMT Gene

Disorders for MTFMT Gene

MalaCards: The human disease database

(8) 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
tympanic membrane disease
  • disorder of tympanic membrane
papillary adenoma
  • glandular papilloma
focal epithelial hyperplasia
  • heck disease
angiolipoma
- elite association
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. Modular organization of FDH: Exploring the basis of hydrolase catalysis. (PMID: 16597835) Reuland S.N. … Krupenko S.A. (Protein Sci. 2006) 23 67
  2. Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure. (PMID: 9614118) Takeuchi N. … Watanabe K. (J. Biol. Chem. 1998) 2 67
  3. Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. (PMID: 25288793) Sinha A. … RajBhandary U.L. (J. Biol. Chem. 2014) 67
  4. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. (PMID: 24461907) Haack T.B. … Freisinger P. (Mol. Genet. Metab. 2014) 67
  5. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (PMID: 22499348) Haack T.B. … Prokisch H. (J. Med. Genet. 2012) 67

Products for MTFMT Gene

Sources for MTFMT Gene

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