Identity
HGNC
LOCATION
3q25.32
LOCUSID
ALIAS
COXPD1,EFG,EFG1,EFGM,EGF1,GFM,hEFG1,mtEF-G1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 85476
MIM: 606639
HGNC: 13780
Ensembl: ENSG00000168827
Variants:
dbSNP: 85476
ClinVar: 85476
TCGA: ENSG00000168827
COSMIC: GFM1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Mitochondrial translation | REACTOME | R-HSA-5368287 |
| Mitochondrial translation elongation | REACTOME | R-HSA-5389840 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35703069 | 2022 | Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family. | 4 |
| 35703069 | 2022 | Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family. | 4 |
| 31680380 | 2020 | Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. | 10 |
| 32602580 | 2020 | Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1. | 20 |
| 32737313 | 2020 | Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation. | 22 |
| 33210482 | 2020 | [Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. | 0 |
| 31680380 | 2020 | Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. | 10 |
| 32602580 | 2020 | Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1. | 20 |
| 32737313 | 2020 | Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation. | 22 |
| 33210482 | 2020 | [Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. | 0 |
| 28216230 | 2017 | Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. | 12 |
| 28216230 | 2017 | Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. | 12 |
| 26890991 | 2016 | Enhanced Antitumor Activity of EGFP-EGF1-Conjugated Nanoparticles by a Multitargeting Strategy. | 8 |
| 26890991 | 2016 | Enhanced Antitumor Activity of EGFP-EGF1-Conjugated Nanoparticles by a Multitargeting Strategy. | 8 |
| 21986555 | 2012 | Toward genotype phenotype correlations in GFM1 mutations. | 9 |
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-(g-elongation-factor-mitochondrial-1)
