GFM1 (G elongation factor mitochondrial 1)

2017-01-01  

Identity

HGNC
LOCATION
3q25.32
LOCUSID
ALIAS
COXPD1,EFG,EFG1,EFGM,EGF1,GFM,hEFG1,mtEF-G1
FUSION GENES

Other Information

Locus ID:

NCBI: 85476
MIM: 606639
HGNC: 13780
Ensembl: ENSG00000168827

Variants:

dbSNP: 85476
ClinVar: 85476
TCGA: ENSG00000168827
COSMIC: GFM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168827ENST00000264263Q96RP9
ENSG00000168827ENST00000464732C9JA25
ENSG00000168827ENST00000472383H7C5M4
ENSG00000168827ENST00000478254F8WAU4
ENSG00000168827ENST00000478576C9IZ01
ENSG00000168827ENST00000486715Q96RP9
ENSG00000168827ENST00000486715E5KND5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

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
171608932007Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.56
155379062004Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.53
166324852006The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.44
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
153583592004Expression and characterization of isoform 1 of human mitochondrial elongation factor G.8
282162302017Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.6
219865552012Toward genotype phenotype correlations in GFM1 mutations.4
196952392009Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus.3
268909912016Enhanced Antitumor Activity of EGFP-EGF1-Conjugated Nanoparticles by a Multitargeting Strategy.3

Citation

Dessen P

GFM1 (G elongation factor mitochondrial 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56719/gfm1