GFM1

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez

85476

28030

Ensembl

ENSG00000168827

ENSMUSG00000027774

UniProt

Q96RP9

Q8K0D5

RefSeq (mRNA)

NM_001308164
NM_001308166
NM_024996

NM_138591

RefSeq (protein)

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

Model organisms have been used in the study of GFM1 function. A conditional knockout mouse line, called Gfm1tm1a(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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000168827 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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. 1 2 3 4 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.

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