GFM1

GFM1
Identifiers
Aliases	GFM1, COXPD1, EFG, EFG1, EFGM, EGF1, GFM, hEFG1, G elongation factor, mitochondrial 1
External IDs	MGI: 107339 HomoloGene: 6449 GeneCards: GFM1
Gene ontology Molecular function • nucleotide binding • poly(A) RNA binding • GTP binding • protein binding • GTPase activity • translation elongation factor activity Cellular component • mitochondrial matrix • intracellular • mitochondrion Biological process • translational elongation • translation • mitochondrial translational elongation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	85476	28030
Ensembl	ENSG00000168827	ENSMUSG00000027774
UniProt	Q96RP9	Q8K0D5
RefSeq (mRNA)	NM_001308164 NM_001308166 NM_024996	NM_138591
RefSeq (protein)	NP_001295093.1 NP_001295095.1 NP_079272.4	NP_613057.2
Location (UCSC)	Chr 3: 158.64 – 158.69 Mb	Chr 3: 67.43 – 67.48 Mb
PubMed search	[1]	[2]
Wikidata

Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene.^[3][4][5]

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known.^[5]

Model organisms

Model organisms have been used in the study of GFM1 function. A conditional knockout mouse line, called Gfm1^{tm1a(EUCOMM)Wtsi[12][13]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[10][17] Twenty four tests were carried out on mutant mice and three significant abnormalities were observed.^[10] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and decreased circulating amylase levels were observed in male animals.^[10]

References

Further reading