MTFMT

MTFMT
Identifiers
Aliases	MTFMT, COXPD15, FMT1, mitochondrial methionyl-tRNA formyltransferase, MC1DN27
External IDs	OMIM: 611766; MGI: 1916856; HomoloGene: 12320; GeneCards: MTFMT; OMA:MTFMT - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	65,029,639 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	65,360,336 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; buccal mucosa cell; ; cardiac muscle tissue of right atrium; ; gastrocnemius muscle; ; mucosa of transverse colon; ; gonad; ; tibial arteries; ; right auricle; ; stromal cell of endometrium; ; muscle of thigh;
	Top expressed in
	medullary collecting duct; ; proximal tubule; ; renal corpuscle; ; right kidney; ; secondary oocyte; ; primary oocyte; ; yolk sac; ; spermatocyte; ; ventricular zone; ; gastrula;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; hydroxymethyl-, formyl- and related transferase activity; catalytic activity; methionyl-tRNA formyltransferase activity;
Cellular component	mitochondrion;
Biological process	conversion of methionyl-tRNA to N-formyl-methionyl-tRNA; biosynthesis; protein biosynthesis; translational initiation;
	Sources:Amigo / QuickGO
Orthologs
	123263
	69606
	ENSG00000103707
	ENSMUSG00000059183
	Q96DP5
	Q9D799
	NM_139242
	NM_027134
	NP_640335
	NP_081410
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial methionyl-tRNA formyltransferase is a protein that in humans is encoded by the MTFMT gene.^[5]

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA.^[5] Recessive-type mutations in MTFMT have been shown to cause mitochondrial disease ^[6]

Model organisms

*Mtfmt* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal^[7]
Citrobacter infection	Normal^[8]
All tests and analysis from^[9]^[10]

Model organisms have been used in the study of MTFMT function. A conditional knockout mouse line, called Mtfmt^{tm1a(KOMP)Wtsi}^[11]^[12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.^[13]^[14]^[15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[9]^[16] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.^[9] During gestation homozygous mutant embryos displayed lethal growth retardation and oedema. In a separate study, no homozygous animals were observed at weaning. The remaining tests were carried out on adult heterozygous mutant animals, but no further abnormalities were seen.^[9]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000103707 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000059183 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Mitochondrial methionyl-tRNA formyltransferase". Retrieved 2011-09-20.
^ "Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation". Retrieved 2012-01-03.
^ "Salmonella infection data for Mtfmt". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Mtfmt". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading