GFM1

GFM1
Identifiers
Aliases	GFM1, COXPD1, EFG, EFG1, EFGM, EGF1, GFM, hEFG1, G elongation factor, mitochondrial 1, G elongation factor mitochondrial 1, mtEF-G1
External IDs	OMIM: 606639; MGI: 107339; HomoloGene: 6449; GeneCards: GFM1; OMA:GFM1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q25.32 Start 158,644,278 bp End 158,692,575 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 E1|3 30.96 cM Start 67,337,429 bp End 67,383,862 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell biceps brachii Brodmann area 23 Skeletal muscle tissue of biceps brachii retinal pigment epithelium Skeletal muscle tissue of rectus abdominis right ventricle germinal epithelium mucosa of sigmoid colon parietal pleura Top expressed in myocardium of ventricle otic placode right kidney cardiac muscles cardiac muscle tissue of left ventricle digastric muscle masseter muscle right ventricle proximal tubule temporal muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding protein binding GTPase activity translation elongation factor activity RNA binding Cellular component mitochondrial matrix intracellular anatomical structure mitochondrion Biological process translational elongation protein biosynthesis mitochondrial translational elongation Sources:Amigo / QuickGO
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 NP_001295095 NP_079272 NP_001361284 NP_001361285 NP_001361286 NP_001361287 NP_001361288 NP_001361289 NP_001361290 NP_613057 Location (UCSC) Chr 3: 158.64 – 158.69 Mb Chr 3: 67.34 – 67.38 Mb PubMed search
Wikidata
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Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene. It is an EF-G homolog.

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.

Further reading

• Bec G, Kerjan P, Zha XD, Waller JP (1990). "Valyl-tRNA synthetase from rabbit liver. I. Purification as a heterotypic complex in association with elongation factor 1". J. Biol. Chem. 264 (35): 21131–7. doi:10.1016/S0021-9258(19)30056-0. PMID 2556394.
• Motorin YuA; Wolfson AD; Orlovsky AF; Gladilin KL (1988). "Mammalian valyl-tRNA synthetase forms a complex with the first elongation factor". FEBS Lett. 238 (2): 262–4. doi:10.1016/0014-5793(88)80492-7. PMID 3169261. S2CID 45934458.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Bhargava K, Templeton P, Spremulli LL (2005). "Expression and characterization of isoform 1 of human mitochondrial elongation factor G". Protein Expr. Purif. 37 (2): 368–76. doi:10.1016/j.pep.2004.06.030. PMID 15358359.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Coenen MJ, Antonicka H, Ugalde C, et al. (2004). "Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency". N. Engl. J. Med. 351 (20): 2080–6. doi:10.1056/NEJMoa041878. hdl:2066/143650. PMID 15537906. S2CID 96906.
• Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA (2006). "The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1". Hum. Mol. Genet. 15 (11): 1835–46. doi:10.1093/hmg/ddl106. PMID 16632485.
• Valente L, Tiranti V, Marsano RM, et al. (2007). "Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu". Am. J. Hum. Genet. 80 (1): 44–58. doi:10.1086/510559. PMC 1785320. PMID 17160893.