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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTFMT Gene

protein-coding   GIFtS: 59
GCID: GC15M065293

Mitochondrial Methionyl-TRNA Formyltransferase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitochondrial Methionyl-TRNA Formyltransferase1 2     EC 2.1.2.93
FMT12 3     FMT3
COXPD152     MtFMT3
Methionyl-TRNA Formyltransferase, Mitochondrial2     

External Ids:    HGNC: 296661   Entrez Gene: 1232632   Ensembl: ENSG000001037077   OMIM: 6117665   UniProtKB: Q96DP53   

Export aliases for MTFMT gene to outside databases

Previous GC identifers: GC15M063082 GC15M042118


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 fragile x syndrome, and pneumonia, and among its related super-pathways are One carbon pool by folate and tRNA Aminoacylation. GO annotations related to this gene include methionyl-tRNA formyltransferase activity and methyltransferase activity.

UniProtKB/Swiss-Prot: FMT_HUMAN, Q96DP5
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)

Gene Wiki entry for MTFMT Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTFMT gene promoter:
         MIF-1   Nkx2-5   IRF-1   Cdc5   Evi-1   GATA-1   PPAR-alpha   PPAR-gamma1   Sox9   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTFMT promoter sequence
   Search SABiosciences Chromatin IP Primers for MTFMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTFMT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.31   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.31

MTFMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTFMT gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M065293:  view genomic region     (about GC identifiers)

Start:
65,293,850 bp from pter      End:
65,321,977 bp from pter
Size:
28,128 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FMT_HUMAN, Q96DP5 (See protein sequence)
Recommended Name: Methionyl-tRNA formyltransferase, mitochondrial precursor  
Size: 389 amino acids; 43832 Da
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=AAH16630.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH33687.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB70984.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for MTFMT: NX_Q96DP5

Explore proteomics data for MTFMT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96DP5

  • MTFMT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTFMT Protein Expression
    REFSEQ proteins: NP_640335.2  
    ENSEMBL proteins: 
     ENSP00000220058   ENSP00000452646   ENSP00000457257   ENSP00000443754  

    Human Recombinant Protein Products for MTFMT: 
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    Novus Biologicals MTFMT Protein
    Novus Biologicals MTFMT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTFMT 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    MTFMT for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for MTFMT 

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    Cloud-Clone Corp. ELISAs for MTFMT 
    Cloud-Clone Corp. CLIAs for MTFMT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR005793 Formyl_trans_C
     IPR011034 Formyl_transferase_C-like
     IPR015518 Met_tRNA_Form_TA-like
     IPR005794 Fmt
     IPR002376 Formyl_transf_N

    Graphical View of Domain Structure for InterPro Entry Q96DP5

    ProtoNet protein and cluster: Q96DP5

    UniProtKB/Swiss-Prot: FMT_HUMAN, Q96DP5
    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
    Similarity: Belongs to the Fmt family


    MTFMT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FMT_HUMAN, Q96DP5
    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)
    Catalytic activity: 10-formyltetrahydrofolate + L-methionyl-tRNA(fMet) = tetrahydrofolate +
    N-formylmethionyl-tRNA(fMet)

         Enzyme Number (IUBMB): EC 2.1.2.91

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004479methionyl-tRNA formyltransferase activity IEA--
    GO:0016742hydroxymethyl-, formyl- and related transferase activity ----
         
    MTFMT for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mtfmt):
     embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 

    MTFMT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTFMT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MTFMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTFMT 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTFMT 

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate MTFMT:
    hsa-miR-502-5p hsa-miR-520d-5p hsa-miR-606 hsa-miR-1297 hsa-miR-942 hsa-miR-524-5p hsa-miR-26a hsa-miR-26b
    SwitchGear 3'UTR luciferase reporter plasmidMTFMT 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MTFMT
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTFMT


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MTFMT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1One Carbon Metabolism
    One Carbon Metabolism0.53
    One carbon pool by folate0.53
    2tRNA Aminoacylation
    Aminoacyl-tRNA biosynthesis0.54
    3Cysteine and methionine metabolism
    Methionine metabolism0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MTFMT
        Methionine metabolism


    1 GeneGo (Thomson Reuters) Pathway for MTFMT
        Methionine metabolism

    1 BioSystems Pathway for MTFMT
        One Carbon Metabolism


    2         Kegg Pathways  (Kegg details for MTFMT):
        One carbon pool by folate
    Aminoacyl-tRNA biosynthesis


    MTFMT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTFMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/17 Interacting proteins for MTFMT (Q96DP53 ENSP000002200584) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3A3Q128743I2D: score=4 
    DHFRENSP000003963084STRING: ENSP00000396308
    GARTENSP000003712364STRING: ENSP00000371236
    MARSENSP000002620274STRING: ENSP00000262027
    MARS2ENSP000002822764STRING: ENSP00000282276
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009058biosynthetic process ----
    GO:0071951conversion of methionyl-tRNA to N-formyl-methionyl-tRNA ----

    MTFMT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTFMT (FMT)

    2 HMDB Compounds for MTFMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    N10-Formyl-THF10-formyl-THF (see all 20)2800-34-2--
    Tetrahydrofolic acid(6S)-Tetrahydrofolate (see all 10)135-16-0--

    1 DrugBank Compound for MTFMT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor10781559

    Search CenterWatch for drugs/clinical trials and news about MTFMT / FMT

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTFMT gene: 
    NM_139242.3  

    Unigene Cluster for MTFMT:

    Mitochondrial methionyl-tRNA formyltransferase
    Hs.531615  [show with all ESTs]
    Unigene Representative Sequence: NM_139242
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000220058(uc002aof.4) ENST00000558460 ENST00000560717 ENST00000543678
    ENST00000558614 ENST00000561025 ENST00000559633
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate MTFMT:
    hsa-miR-502-5p hsa-miR-520d-5p hsa-miR-606 hsa-miR-1297 hsa-miR-942 hsa-miR-524-5p hsa-miR-26a hsa-miR-26b
    SwitchGear 3'UTR luciferase reporter plasmidMTFMT 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTFMT
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTFMT (NM_139242)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTFMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTFMT
    Sirion Biotech Customized lentivirus for stable overexpression of MTFMT 
                         Customized lentivirus expression plasmids for stable overexpression of MTFMT 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTFMT
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTFMT

    Additional mRNA sequence: 

    AK055688.1 AK301390.1 BC016630.1 BC033687.1 

    4 DOTS entries:

    DT.305132  DT.75176931  DT.100021699  DT.100747233 

    24/44 AceView cDNA sequences (see all 44):

    AL701820 NM_139242 BX094075 AI216362 AL529843 AK055688 BC016630 CR595154 
    BC033687 BM849836 BQ707648 BM785042 AI292236 AW139851 CF128305 BX425481 
    BI753422 AL701829 BG193279 BM993751 AA912159 BG028642 BI753421 W20101 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MTFMT    About this scheme

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


    ECgene alternative splicing isoforms for MTFMT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTFMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCATTTCAG
    MTFMT Expression
    About this image


    See MTFMT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTFMT

    SOURCE GeneReport for Unigene cluster: Hs.531615
        SABiosciences Custom PCR Arrays for MTFMT
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTFMT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTFMT gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtfmt1 , 5 mitochondrial methionyl-tRNA formyltransferase1, 5 82.22(n)1
    82.31(a)1
      9 (35.31 cM)5
    696061  NM_027134.31  NP_081410.21 
     654357825 
    chicken
    (Gallus gallus)
    Aves MTFMT1 mitochondrial methionyl-tRNA formyltransferase 68.24(n)
    64.79(a)
      415532  XM_413901.3  XP_413901.3 
    lizard
    (Anolis carolinensis)
    Reptilia MTFMT6
    Uncharacterized protein
    54(a)
    1 ↔ 1
    GL343392.1(220543-239561)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1526511 zgc:152651 59.04(n)
    56.11(a)
      556680  NM_001077542.2  NP_001071010.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17501 CG1750 48.78(n)
    39.37(a)
      43699  NM_143600.2  NP_651857.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FMT1(YBL013W)4 Methionyl-tRNA formyltransferase, catalyzes the formylation more   --   2(202056-203261) 852270  NP_009540.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons pde1941 methionyl-tRNA formyltransferase 45.51(n)
    31.25(a)
      842970  NM_105323.3  NP_176825.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06875001 hypothetical protein 42.43(n)
    27.3(a)
      4324118  NM_001050448.1  NP_001043913.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/717 SNPs in MTFMT are shown (see all 717)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693034
    Combined oxidative phosphorylation deficiency 15 (COXPD15)4--see VAR_0693032 S L mis40--------
    VAR_0693044
    Combined oxidative phosphorylation deficiency 15 (COXPD15)4--see VAR_0693042 S L mis40--------
    rs734732411,2
    C,F--42131167(+) TAGAAC/TTGCTA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs727463511,2
    C,F--42131170(+) AATTGC/TTAGAG 1 -- int12Minor allele frequency- T:0.02NA 122
    rs39856641,2
    C--42142344(+) GGCCTAACT/-  
            
    TTTAT
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs1910082041,2
    --45354399(+) AATACA/CTCAGA 1 -- ds50010--------
    rs1822845281,2
    --45354434(+) GGAGAA/GTCCTG 1 -- ds50010--------
    rs1479140521,2
    --45354569(+) AAGACC/TTTCAC 1 -- ds50010--------
    rs169484571,2
    C,F,H--45354690(+) CAGATG/TCTCAA 1 -- ut3114Minor allele frequency- T:0.08NA NS EA WA 1906
    rs1421536491,2
    C--45354760(+) TGGGCC/TGGGTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MTFMT (65293850 - 65321977 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MTFMT: --

    Human Gene Mutation Database (HGMD): MTFMT
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MTFMT
    DNA2.0 Custom Variant and Variant Library Synthesis for MTFMT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611766    OMIM disorders: --

    UniProtKB/Swiss-Prot: FMT_HUMAN, Q96DP5
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 3 diseases for MTFMT:    About MalaCards
    fragile x syndrome    pneumonia    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for MTFMT:
    Leigh disease

    MTFMT for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTFMT
    Human Genome Epidemiology (HuGE) Navigator: MTFMT (1 document)

    Export disorders for MTFMT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTFMT gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with MTFMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in MTFMT underlie a human disorder of formy lation causing impaired mitochondrial translation. (PubMed id 21907147)1, 2 Tucker E.J....Mootha V.K. (2011)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure. (PubMed id 9614118)1, 3 Takeuchi N....Watanabe K. (1998)
    6. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (PubMed id 22499348)2 Haack T.B.... Prokisch H. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Initiation of protein synthesis in Saccharomyces cere visiae mitochondria without formylation of the initiator tRNA. (PubMed id 10781559)7 Li Y....RajBhandary U.L. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 123263 HGNC: 29666 AceView: MtFMT Ensembl:ENSG00000103707 euGenes: HUgn123263
    ECgene: MTFMT Kegg: 123263 H-InvDB: MTFMT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTFMT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTFMT gene:
    Search GeneIP for patents involving MTFMT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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