WARS2

WARS2
Identifiers
Aliases	WARS2 , TrpRS, tryptophanyl tRNA synthetase 2, mitochondrial, NEMMLAS, mtTrpRS, PKDYS3
External IDs	OMIM: 604733 MGI: 1917810 HomoloGene: 5673 GeneCards: WARS2
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p12 Start 119,031,216 bp [1] End 119,140,654 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F2.2 Start 99,048,384 bp [2] End 99,146,502 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell Achilles tendon parietal pleura tibia Left adrenal gland body of pancreas rectum islet of Langerhans stromal cell of endometrium ganglionic eminence Top expressed in morula submandibular gland urethra endocardial cushion medullary collecting duct fossa atrioventricular valve secondary oocyte condyle dermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function aminoacyl-tRNA ligase activity nucleotide binding ligase activity ATP binding tryptophan-tRNA ligase activity Cellular component cytoplasm mitochondrion plasma membrane mitochondrial matrix Biological process vasculogenesis tryptophanyl-tRNA aminoacylation tRNA aminoacylation for protein translation protein biosynthesis mitochondrial tryptophanyl-tRNA aminoacylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10352 70560 Ensembl ENSG00000116874 ENSMUSG00000004233 UniProt Q9UGM6 Q9CYK1 RefSeq (mRNA) NM_015836 NM_201263 NM_001378226 NM_001378227 NM_001378228 NM_001378229 NM_001378230 NM_001378231 NM_027462 RefSeq (protein) NP_056651 NP_957715 NP_001365155 NP_001365156 NP_001365157 NP_001365158 NP_001365159 NP_001365160 NP_081738 Location (UCSC) Chr 1: 119.03 – 119.14 Mb Chr 3: 99.05 – 99.15 Mb PubMed search [3] [4]
Wikidata
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Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene. ^{[5] [6] [7]}

Function

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

1. GRCh38: Ensembl release 89: ENSG00000116874 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000004233 - 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. 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.
6. 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.
7. "Entrez Gene: WARS2 tryptophanyl tRNA synthetase 2, mitochondrial".
8. 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

• 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

• WARS2 human gene location in the UCSC Genome Browser .
• WARS2 human gene details in the UCSC Genome Browser .