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

Gene ID: 123263, updated on 5-Mar-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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Location:
15q22.31
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65001512..65029639, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62810917..62839061, complement)
105.20220307 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. 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
  2. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Bai R, et al. Clin Genet, 2020 May. PMID 32133637
  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. 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
  5. 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

See all (26) 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)

Genotypes

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
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_2023_10

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

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