WARS2
| WARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | WARS2, TrpRS, tryptophanyl tRNA synthetase 2, mitochondrial, NEMMLAS, mtTrpRS, PKDYS3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604733; MGI: 1917810; HomoloGene: 5673; GeneCards: WARS2; OMA:WARS2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene.[5][6][7]
Function
[edit]Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described.[7] According to recent research, mutations of the mitochondrial form of the enzyme are believed to express two different neurological disorders: A subtype of autosomal recessive intellectual disability and a syndrome of severe infantile‐onset leukoencephalopathy.[8]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000116874 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004233 – 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.
- ↑ Martinez-Dominguez MT, Justesen J, Kruse TA, Hansen LL (Mar 1999). "Assignment of the human mitochondrial tryptophanyl-tRNA synthetase (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 83 (3–4): 249–250. doi:10.1159/000015196. PMID 10072595. S2CID 28931531.
- ↑ Jorgensen R, Søgaard TM, Rossing AB, Martensen PM, Justesen J (June 2000). "Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase". The Journal of Biological Chemistry. 275 (22): 16820–16826. doi:10.1074/jbc.275.22.16820. PMID 10828066.
- 1 2 "Entrez Gene: WARS2 tryptophanyl tRNA synthetase 2, mitochondrial".
- ↑ Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, et al. (March 2018). "Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism". Clinical Genetics. 93 (3): 712–718. doi:10.1111/cge.13172. PMC 5828974. PMID 29120065.
Further reading
[edit]- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Liu J, Shue E, Ewalt KL, Schimmel P (2004). "A new gamma-interferon-inducible promoter and splice variants of an anti-angiogenic human tRNA synthetase". Nucleic Acids Research. 32 (2): 719–727. doi:10.1093/nar/gkh240. PMC 373357. PMID 14757836.
- Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, et al. (December 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–954. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
- Guo LT, Chen XL, Zhao BT, Shi Y, Li W, Xue H, Jin YX (2007). "Human tryptophanyl-tRNA synthetase is switched to a tRNA-dependent mode for tryptophan activation by mutations at V85 and I311". Nucleic Acids Research. 35 (17): 5934–5943. doi:10.1093/nar/gkm633. PMC 2034488. PMID 17726052.
External links
[edit]- WARS2 human gene location in the UCSC Genome Browser.
- WARS2 human gene details in the UCSC Genome Browser.
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