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)
End	158,692,575 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	67,383,862 bp
RNA expression pattern
	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
	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
	85476
	28030
	ENSG00000168827
	ENSMUSG00000027774
	Q96RP9
	Q8K0D5
	NM_001308164; NM_001308166; NM_024996
	NM_138591
NP_001295093; NP_001295095; NP_079272; NP_001361284; NP_001361285;
	NP_001361286; NP_001361287; NP_001361288; NP_001361289; NP_001361290
	NP_613057
	Wikidata
View/Edit Human	View/Edit Mouse

Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene.^[5]^[6]^[7]

Template:PBB Summary

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168827 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027774 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: GFM1 G elongation factor, mitochondrial 1".
^ "Clinical chemistry data for Gfm1". Wellcome Trust Sanger Institute.
^ "Peripheral blood lymphocytes data for Gfm1". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Gfm1". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Gfm1". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d 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.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ 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.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading