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MTFMT - mitochondrial methionyl-tRNA formyltransferase Gene

Also Known as FMT1; COXPD15; MC1DN27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 123263

About MTFMT

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,001,512-65,029,639 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 2.7), kidney (RPKM 2.6) and 25 other tissues.

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]

MTFMT Products (1)

mRNA	Protein	Name
NM_139242.4	NP_640335.2	methionyl-tRNA formyltransferase, mitochondrial

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables methionyl-tRNA formyltransferase activity	IDA IDA: Inferred from direct assay	25288793	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in conversion of methionyl-tRNA to N-formyl-methionyl-tRNA	IDA IDA: Inferred from direct assay	25288793	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTFMT Protein Structure

Formyl_trans_N

Formyl_trans_C

0
100
200
300
389 a.a.

Protein Preferred Names	Protein Names
methionyl-tRNA formyltransferase, mitochondrial

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 15	COXPD15 Combined Oxidative Phosphorylation Defect Type 15 Combined Oxidative Phosphorylation Deficiency, Type 15
Mitochondrial Complex I Deficiency, Nuclear Type 27	MC1DN27 Mitochondrial Complex 1 Deficiency, Nuclear Type 27 Nuclear Type Mitochondrial Complex I Deficiency 27
Mitochondrial Oxidative Phosphorylation Disorder	Oxphos Disease Mitochondrial Respiratory Chain Disorders Oxphos - [Oxidative Phosphorylation] Diseases
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Combined Oxidative Phosphorylation Deficiency 24	COXPD24 Combined Oxidative Phosphorylation Defect Type 24 Oxidative Phosphorylation Deficiency, Combined, Type 24
Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 12	COXPD12 Ltbl Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome Combined Oxidative Phosphorylation Defect Type 12 Combined Oxidative Phosphorylation Deficiency, Type 12
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Leukodystrophy	Leukodystrophies
Myopathy	Muscular Diseases Myopathies
Moyamoya Disease 1	Moyamoya Disease Spontaneous Occlusion Of The Circle Of Willis Mymy Progressive Intracranial Arterial Occlusion Moyamoya Syndrome MYMY1 Cerebrovascular Moyamoya Disease Moya-Moya Disease Progressive Intracranial Occlusive Arteropathy Idiopathic Moyamoya Disease
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08767	MTFMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTFMT	MGD	MGI:1916856
Rattus norvegicus	MTFMT	RGD	RGD:1309462
Canis familiaris	MTFMT	VGNC	VGNC:43468
Bos taurus	MTFMT	VGNC	VGNC:31724
Felis catus	MTFMT	VGNC	VGNC:63648
Others	MTFMT	NCBI