TUFM (Tu translation elongation factor, mitochondrial)

2013-05-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
COXPD4,EF-TuMT,EFTU,P43

Other Information

Locus ID:

NCBI: 7284
MIM: 602389
HGNC: 12420
Ensembl: ENSG00000178952

Variants:

dbSNP: 7284
ClinVar: 7284
TCGA: ENSG00000178952
COSMIC: TUFM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178952ENST00000313511P49411
ENSG00000178952ENST00000313511A0A384ME17
ENSG00000178952ENST00000565012H3BNU3

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation elongationREACTOMER-HSA-5389840

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
227493522012The mitochondrial proteins NLRX1 and TUFM form a complex that regulates type I interferon and autophagy.106
171608932007Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.56
187531472008The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.42
233215572013The NLR protein, NLRX1, and its partner, TUFM, reduce type I interferon, and enhance autophagy.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
268762132016EGFR-targeted mAb therapy modulates autophagy in head and neck squamous cell carcinoma through NLRX1-TUFM protein complex.16
286112462017Inhibition of Avian Influenza A Virus Replication in Human Cells by Host Restriction Factor TUFM Is Correlated with Autophagy.16
267814672016TUFM downregulation induces epithelial-mesenchymal transition and invasion in lung cancer cells via a mechanism involving AMPK-GSK3β signaling.10
195246672009The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.8
227723422012TUFM is a potential new prognostic indicator for colorectal carcinoma.8

Citation

Dessen P

TUFM (Tu translation elongation factor, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53287/tufm