MTFMT (mitochondrial methionyl-tRNA formyltransferase)

2014-11-01  

Identity

HGNC
MTFMT
LOCATION
15q22.31
LOCUSID
123263
ALIAS
COXPD15,FMT1,MC1DN27

Other Information

Locus ID:

NCBI: 123263
MIM: 611766
HGNC: 29666
Ensembl: ENSG00000103707

Variants:

dbSNP: 123263
ClinVar: 123263
TCGA: ENSG00000103707
COSMIC: MTFMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103707ENST00000220058Q96DP5
ENSG00000103707ENST00000543678Q96DP5
ENSG00000103707ENST00000558460Q96DP5
ENSG00000103707ENST00000560717H3BTN9

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
One carbon pool by folateKEGGko00670
Aminoacyl-tRNA biosynthesisKEGGko00970
One carbon pool by folateKEGGhsa00670
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation initiationREACTOMER-HSA-5368286

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
321336372020First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.0
326364302020MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection.1
321336372020First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.0
326364302020MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection.1
244619072014Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.36
252887932014Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.9
252887932014Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.9
244619072014Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.36
252887932014Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.9
252887932014Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.9
219071472011Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.76
219071472011Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.76
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

MTFMT (mitochondrial methionyl-tRNA formyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70540