MTRF1L

Mitochondrial translational release factor 1-like is a protein that in humans is encoded by the MTRF1L gene.[5]

MTRF1L
Identifiers
AliasesMTRF1L, HMRF1L, MRF1L, mtRF1a, mitochondrial translational release factor 1 like
External IDsOMIM: 613542 MGI: 1918830 HomoloGene: 5905 GeneCards: MTRF1L
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6q25.2Start152,987,362 bp[1]
End153,002,709 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

54516

108853

Ensembl

ENSG00000112031

ENSMUSG00000019774

UniProt

Q9UGC7

Q8BJU9

RefSeq (mRNA)

NM_175374

RefSeq (protein)

NP_780583

Location (UCSC)Chr 6: 152.99 – 153 MbChr 10: 5.81 – 5.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial DNA encodes 13 proteins that play essential roles in the respiratory chain, while all proteins involved in mitochondrial translation are encoded by nuclear genes that are imported from the cytoplasm. MTRF1L is a nuclear-encoded protein that functions as a releasing factor that recognizes termination codons and releases mitochondrial ribosomes from the synthesized protein (summary by Nozaki et al., 2008 [PubMed 18429816]).[supplied by OMIM].[5]

Model organisms

Model organisms have been used in the study of MTRF1L function. A conditional knockout mouse line, called Mtrf1ltm1a(KOMP)Wtsi[11][12] 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 — at the Wellcome Trust Sanger Institute.[13][14][15] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed. No homozygous mutant embryos were recorded during gestation and, in a separate study, no homozygous animals were observed at weaning. The remaining tests were carried out on adult heterozygous mutant animals and males displayed an increased circulating free fatty acid level.[9]

References
  1. GRCh38: Ensembl release 89: ENSG00000112031 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000019774 - 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. "Entrez Gene: Mitochondrial translational release factor 1-like". Retrieved 2011-09-20.
  6. "Clinical chemistry data for Mtrf1l". Wellcome Trust Sanger Institute.
  7. "Salmonella infection data for Mtrf1l". Wellcome Trust Sanger Institute.
  8. "Citrobacter infection data for Mtrf1l". Wellcome Trust Sanger Institute.
  9. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. "International Knockout Mouse Consortium".
  12. "Mouse Genome Informatics".
  13. 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.
  14. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  16. 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

Soleimanpour-Lichaei, H. R.; Kühl, I.; Gaisne, M.; Passos, J. F.; Wydro, M.; Rorbach, J.; Temperley, R.; Bonnefoy, N.; Tate, W.; Lightowlers, R.; Chrzanowska-Lightowlers, Z. (2007). "MtRF1a is a Human Mitochondrial Translation Release Factor Decoding the Major Termination Codons UAA and UAG". Molecular Cell. 27 (5): 745–757. doi:10.1016/j.molcel.2007.06.031. PMC 1976341. PMID 17803939. Nozaki, Y.; Matsunaga, N.; Ishizawa, T.; Ueda, T.; Takeuchi, N. (2008). "HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG". Genes to Cells. 13 (5): 429–438. doi:10.1111/j.1365-2443.2008.01181.x. PMID 18429816. S2CID 21204094. Ishizawa, T.; Nozaki, Y.; Ueda, T.; Takeuchi, N. (2008). "The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC". Biochemical and Biophysical Research Communications. 373 (1): 99–103. doi:10.1016/j.bbrc.2008.05.176. PMID 18541145. Vieira, A. R.; McHenry, T. G.; Daack-Hirsch, S.; Murray, J. C.; Marazita, M. L. (2008). "Candidate Gene/Loci Studies in Cleft Lip/Palate and Dental Anomalies Finds Novel Susceptibility Genes for Clefts". Genetics in Medicine. 10 (9): 668–674. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678. Antonicka, H.; Østergaard, E.; Sasarman, F.; Weraarpachai, W.; Wibrand, F.; Pedersen, A. M. B.; Rodenburg, R. J.; Van Der Knaap, M. S.; Smeitink, J. A. M.; Chrzanowska-Lightowlers, Z. M.; Shoubridge, E. A. (2010). "Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect". The American Journal of Human Genetics. 87 (1): 115–122. doi:10.1016/j.ajhg.2010.06.004. PMC 2896764. PMID 20598281.


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