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
219071472011Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.52
244619072014Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.31
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
252887932014Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.7
252887932014Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.7

Citation

Dessen P

MTFMT (mitochondrial methionyl-tRNA formyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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