• Gene id: 123263

Gene Summary

• Gene Symbol: MTFMT   Gene   UCSC   Ensembl
• Aliases: COXPD15, FMT1, MC1DN27
• Gene name: mitochondrial methionyl-tRNA formyltransferase
• Alternate names: methionyl-tRNA formyltransferase, mitochondrial,
• Gene location: 15q22.31 (65029638: 65001511)     Exons: 9     NC_000015.10
• Gene summary(Entrez): The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
• OMIM: 611766

Protein Summary

• Protein general information: Q96DP5  
  • Name: Methionyl tRNA formyltransferase, mitochondrial (MtFMT) (EC 2.1.2.9)
  • Length: 389  
  • Mass: 43832
• Sequence:

  MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAREALRALHAARENKEE
  ELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDVGVVASFGRLLNEALILKFPYGILNVHPSCL
  PRWRGPAPVIHTVLHGDTVTGVTIMQIRPKRFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVLKNLPE
  SLSNGRQQPMEGATYAPKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPK
  LTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYLHPWYQKNSQAQPSQCRFQTLRLPTK
  KKQKKTVAMQQCIE

• Structural information:
  • Interpro: IPR005794  IPR005793  IPR037022  IPR002376  IPR036477   IPR011034  IPR041711  
  • CDD: cd08646
  • STRING: ENSP00000220058
• Other Databases: GeneCards:  MTFMT  Malacards:  MTFMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0004479	methionyl-tRNA formyltransferase activity	IBA	molecular function
GO:0071951	conversion of methionyl-tRNA to N-formyl-methionyl-tRNA	IBA	biological process
GO:0004479	methionyl-tRNA formyltransferase activity	IEA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0016742	hydroxymethyl-, formyl- and related transferase activity	IEA	molecular function
GO:0071951	conversion of methionyl-tRNA to N-formyl-methionyl-tRNA	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004479	methionyl-tRNA formyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006413	translational initiation	IEA	biological process
GO:0006413	translational initiation	IEA	biological process
GO:0006413	translational initiation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)