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

Summary

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: mouse all
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Genomic context

Location:: 15q22.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (65001512..65029639, complement)
RS_2023_03	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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

RH103281 (e-PCR)
- UniSTS:88217

KS608 (e-PCR)
- UniSTS:253179

Homology

Homologs of the MTFMT gene: The MTFMT gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 488 organisms have orthologs with human gene MTFMT
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables methionyl-tRNA formyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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	PubMed
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

EC 2.1.2.9

XP_005254215.2

EC 2.1.2.9

XP_054233240.1

EC 2.1.2.9

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

NG_029184.1 RefSeqGene

Range

5001..33128

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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