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
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q25.32 Start 158,644,278 bp [1] End 158,692,575 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3 E1|3 30.96 cM Start 67,337,429 bp [2] End 67,383,862 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell biceps brachii Brodmann area 23 retinal pigment epithelium right ventricle germinal epithelium parietal pleura secondary oocyte visceral pleura jejunal mucosa Top expressed in myocardium of ventricle otic placode cardiac muscles digastric muscle masseter muscle right ventricle proximal tubule temporal muscle atrium sternocleidomastoid 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene. It is an EF-G homolog. ^{[5] [6] [7]}

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. ^[7]

Model organisms

Gfm1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal [8]
Haematology	Normal
Peripheral blood lymphocytes	Normal [9]
Micronucleus test	Normal
Heart weight	Normal
Eye Histopathology	Normal
Salmonella infection	Normal [10]
Citrobacter infection	Normal [11]
All tests and analysis from [12] [13]

Model organisms have been used in the study of GFM1 function. A conditional knockout mouse line, called Gfm1^{tm1a(EUCOMM)Wtsi [14] [15]} 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. ^{[16] [17] [18]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[12] [19]} Twenty four tests were carried out on mutant mice and three significant abnormalities were observed. ^[12] 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. ^[12]

References

1. GRCh38: Ensembl release 89: ENSG00000168827 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027774 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gao J, Yu L, Zhang P, Jiang J, Chen J, Peng J, Wei Y, Zhao S (May 2001). "Cloning and characterization of human and mouse mitochondrial elongation factor G, GFM and Gfm, and mapping of GFM to human chromosome 3q25.1-q26.2". Genomics. 74 (1): 109–14. doi:10.1006/geno.2001.6536. PMID   11374907.
6. Hammarsund M, Wilson W, Corcoran M, Merup M, Einhorn S, Grander D, Sangfelt O (Dec 2001). "Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution". Hum Genet. 109 (5): 542–50. doi:10.1007/s00439-001-0610-5. PMID   11735030. S2CID   24508386.
7. "Entrez Gene: GFM1 G elongation factor, mitochondrial 1".
8. "Clinical chemistry data for Gfm1". Wellcome Trust Sanger Institute.
9. "Peripheral blood lymphocytes data for Gfm1". Wellcome Trust Sanger Institute.
10. "Salmonella infection data for Gfm1". Wellcome Trust Sanger Institute.
11. "Citrobacter infection data for Gfm1". Wellcome Trust Sanger Institute.
12. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
13. Mouse Resources Portal, Wellcome Trust Sanger Institute.
14. "International Knockout Mouse Consortium".
15. "Mouse Genome Informatics".
16. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
17. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
18. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
19. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

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.