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    MTFMT mitochondrial methionyl-tRNA formyltransferase [ Homo sapiens (human) ]

    Gene ID: 123263, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MTFMTprovided by HGNC
    Official Full Name
    mitochondrial methionyl-tRNA formyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:29666
    See related
    Ensembl:ENSG00000103707 MIM:611766; AllianceGenome:HGNC:29666
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FMT1; COXPD15; MC1DN27
    Summary
    The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in colon (RPKM 2.7), kidney (RPKM 2.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See MTFMT in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65001512..65029639, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62810917..62839061, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65293850..65321977, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65204313-65204856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65207564-65208064 Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene Sharpr-MPRA regulatory region 9291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65223351-65224228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239186-65239686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239687-65240187 Neighboring gene SPG21 abhydrolase domain containing, maspardin Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:65281459-65281960 and GRCh37_chr15:65281961-65282460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9590 Neighboring gene transmembrane protein 126A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65346770-65347270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65347271-65347771 Neighboring gene SLC51 subunit beta Neighboring gene RAS like family 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65363995-65364494 Neighboring gene kelch repeat and BTB domain containing 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Tucker EJ, et al. Cell Metab, 2011 Sep 7. PMID 21907147, Free PMC Article
    2. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Haack TB, et al. Mol Genet Metab, 2014 Mar. PMID 24461907
    3. Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. Sinha A, et al. J Biol Chem, 2014 Nov 21. PMID 25288793, Free PMC Article
    4. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Bai R, et al. Clin Genet, 2020 May. PMID 32133637
    5. MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection. Seo JH, et al. Sci Rep, 2020 Jul 7. PMID 32636430, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
      Title: First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
    2. MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection.
      Title: MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection.
    3. Data indicate that methionyl-tRNA formyltransferase (MTF) mutation initiated poor formylation of mitochondrial methionyl-tRNA and thereby reduced mitochondrial translation efficiency, causing Leigh syndrome.
      Title: Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
    4. We provide detailed clinical descriptions on eleven MTFMT patients and review five previously reported cases
      Title: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
    5. Recessive mutations in MTFMT underlie defects of the mitochondrial respiratory chain, leading to multi-system disease that includes Leigh syndrome. This paper reports on the biochemical activity of such mutant alleles.
      Title: Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
    6. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
      Title: Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation defect type 15
    MedGen: C4706313 OMIM: 614947 GeneReviews: Not available
    		Compare labs
    Mitochondrial complex 1 deficiency, nuclear type 27
    MedGen: C4748826 OMIM: 618248 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methionyl-tRNA formyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methionyl-tRNA formyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in conversion of methionyl-tRNA to N-formyl-methionyl-tRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in conversion of methionyl-tRNA to N-formyl-methionyl-tRNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translational initiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    methionyl-tRNA formyltransferase, mitochondrial
    NP_640335.2
    XP_005254215.2
    XP_054233240.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029184.1 RefSeqGene

      Range
      5001..33128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139242.4 → NP_640335.2  methionyl-tRNA formyltransferase, mitochondrial

      See identical proteins and their annotated locations for NP_640335.2

      Status: REVIEWED

      Source sequence(s)
      AC103691, BC033687, BQ774051, DC295382
      Consensus CDS
      CCDS45280.1
      UniProtKB/Swiss-Prot
      B7Z734, Q96DP5
      Related
      ENSP00000220058.4, ENST00000220058.9
      Conserved Domains (3) summary
      cd08646
      Location:48 → 244
      FMT_core_Met-tRNA-FMT_N; Methionyl-tRNA formyltransferase, N-terminal hydrolase domain
      TIGR00460
      Location:49 → 360
      fmt; methionyl-tRNA formyltransferase
      cl14785
      Location:248 → 348
      FMT_C_like; Carboxy-terminal domain of Formyltransferase and similar domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65001512..65029639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254158.6 → XP_005254215.2  methionyl-tRNA formyltransferase, mitochondrial isoform X1

    RNA

    1. XR_007064421.1 RNA Sequence

    2. XR_001751081.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62810917..62839061 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377265.1 → XP_054233240.1  methionyl-tRNA formyltransferase, mitochondrial isoform X1

    RNA

    1. XR_008488917.1 RNA Sequence

    2. XR_008488916.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DP5.2 GenPept UniProtKB/Swiss-Prot:Q96DP5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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