Human Gene MTFMT (uc002aof.4)
  Description: Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_139242): The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011].
Transcript (Including UTRs)
   Position: hg19 chr15:65,293,850-65,321,977 Size: 28,128 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr15:65,295,400-65,321,951 Size: 26,552 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:65,293,850-65,321,977)mRNA (may differ from genome)Protein (389 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FMT_HUMAN
DESCRIPTION: RecName: Full=Methionyl-tRNA formyltransferase, mitochondrial; Short=MtFMT; EC=2.1.2.9; Flags: Precursor;
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).
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
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.
SEQUENCE CAUTION: Sequence=AAH16630.2; Type=Erroneous initiation; Sequence=AAH33687.1; Type=Erroneous initiation; Sequence=BAB70984.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MTFMT
CDC HuGE Published Literature: MTFMT

-  MalaCards Disease Associations
  MalaCards Gene Search: MTFMT
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 15* (1680), leigh syndrome* (97), leigh syndrome with leukodystrophy* (88), tympanic membrane disease (15), focal epithelial hyperplasia (8), papillary adenoma (7), angiolipoma (7), external ear disease (7), otitis externa (6), mitochondrial complex i deficiency (2), mitochondrial metabolism disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.76 RPKM in Fallopian Tube
Total median expression: 222.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.9026-0.573 Picture PostScript Text
3' UTR -448.591550-0.289 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005794 - Fmt
IPR005793 - Formyl_trans_C
IPR002376 - Formyl_transf_N
IPR011034 - Formyl_transferase_C-like
IPR015518 - Met_tRNA_Form_TA-like

Pfam Domains:
PF00551 - Formyl transferase
PF02911 - Formyl transferase, C-terminal domain

SCOP Domains:
50486 - FMT C-terminal domain-like
53328 - Formyltransferase

ModBase Predicted Comparative 3D Structure on Q96DP5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsemblFlyBase SGD
 Protein SequenceProtein SequenceProtein Sequence Protein Sequence
 AlignmentAlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004479 methionyl-tRNA formyltransferase activity
GO:0016740 transferase activity
GO:0016742 hydroxymethyl-, formyl- and related transferase activity

Biological Process:
GO:0006412 translation
GO:0006413 translational initiation
GO:0009058 biosynthetic process
GO:0071951 conversion of methionyl-tRNA to N-formyl-methionyl-tRNA

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  KJ903703 - Synthetic construct Homo sapiens clone ccsbBroadEn_13097 MTFMT gene, encodes complete protein.
JD308264 - Sequence 289288 from Patent EP1572962.
JD308263 - Sequence 289287 from Patent EP1572962.
JD091460 - Sequence 72484 from Patent EP1572962.
JD346369 - Sequence 327393 from Patent EP1572962.
JD311885 - Sequence 292909 from Patent EP1572962.
JD311886 - Sequence 292910 from Patent EP1572962.
JD414874 - Sequence 395898 from Patent EP1572962.
JD311884 - Sequence 292908 from Patent EP1572962.
JD069757 - Sequence 50781 from Patent EP1572962.
JD476750 - Sequence 457774 from Patent EP1572962.
AK055688 - Homo sapiens cDNA FLJ31126 fis, clone IMR322000838, highly similar to METHIONYL-TRNA FORMYLTRANSFERASE, MITOCHONDRIAL PRECURSOR (EC 2.1.2.9).
BC016630 - Homo sapiens mitochondrial methionyl-tRNA formyltransferase, mRNA (cDNA clone MGC:21764 IMAGE:4707448), complete cds.
BC033687 - Homo sapiens mitochondrial methionyl-tRNA formyltransferase, mRNA (cDNA clone MGC:45479 IMAGE:5196677), complete cds.
JD143798 - Sequence 124822 from Patent EP1572962.
JD504846 - Sequence 485870 from Patent EP1572962.
JD414758 - Sequence 395782 from Patent EP1572962.
JD311669 - Sequence 292693 from Patent EP1572962.
JD379620 - Sequence 360644 from Patent EP1572962.
JD513904 - Sequence 494928 from Patent EP1572962.
JD120533 - Sequence 101557 from Patent EP1572962.
JD364168 - Sequence 345192 from Patent EP1572962.
JD072190 - Sequence 53214 from Patent EP1572962.
JD072189 - Sequence 53213 from Patent EP1572962.
JD345585 - Sequence 326609 from Patent EP1572962.
JD518835 - Sequence 499859 from Patent EP1572962.
JD274949 - Sequence 255973 from Patent EP1572962.
JD160786 - Sequence 141810 from Patent EP1572962.
JD152981 - Sequence 134005 from Patent EP1572962.
JD325856 - Sequence 306880 from Patent EP1572962.
JD180404 - Sequence 161428 from Patent EP1572962.
JD538783 - Sequence 519807 from Patent EP1572962.
AB590989 - Synthetic construct DNA, clone: pFN21AE2227, Homo sapiens MTFMT gene for mitochondrial methionyl-tRNA formyltransferase, without stop codon, in Flexi system.
AK301390 - Homo sapiens cDNA FLJ50257 complete cds, highly similar to Methionyl-tRNA formyltransferase, mitochondrial precursor (EC 2.1.2.9).
JD141396 - Sequence 122420 from Patent EP1572962.
JD159290 - Sequence 140314 from Patent EP1572962.
JD341420 - Sequence 322444 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00670 - One carbon pool by folate
hsa00970 - Aminoacyl-tRNA biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q96DP5 (Reactome details) participates in the following event(s):

R-HSA-5389841 MTFMT formylates methionyl-tRNA
R-HSA-5368286 Mitochondrial translation initiation
R-HSA-5368287 Mitochondrial translation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: FMT, FMT1, FMT_HUMAN, NM_139242, NP_640335, Q96DP5
UCSC ID: uc002aof.4
RefSeq Accession: NM_139242
Protein: Q96DP5 (aka FMT_HUMAN)
CCDS: CCDS45280.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MTFMT:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_139242.3
exon count: 9CDS single in 3' UTR: no RNA size: 2763
ORF size: 1170CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2433.00frame shift in genome: no % Coverage: 99.38
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.