Alanine--tRNA ligase, mitochondrial

NameAlanine--tRNA ligase, mitochondrial
Synonyms
  • 6.1.1.7
  • AARSL
  • Alanyl-tRNA synthetase
  • AlaRS
  • KIAA1270
Gene NameAARS2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004552|Alanine--tRNA ligase, mitochondrial
MAASVAAAARRLRRAIRRSPAWRGLSHRPLSSEPPAAKASAVRAAFLNFFRDRHGHRLVP
SASVRPRGDPSLLFVNAGMNQFKPIFLGTVDPRSEMAGFRRVANSQKCVRAGGHHNDLED
VGRDLSHHTFFEMLGNWAFGGEYFKEEACNMAWELLTQVYGIPEERLWISYFDGDPKAGL
DPDLETRDIWLSLGVPASRVLSFGPQENFWEMGDTGPCGPCTEIHYDLAGGVGAPQLVEL
WNLVFMQHNREADGSLQPLPQRHVDTGMGLERLVAVLQGKHSTYDTDLFSPLLNAIQQGC
RAPPYLGRVGVADEGRTDTAYRVVADHIRTLSVCISDGIFPGMSGPPLVLRRILRRAVRF
SMEILKAPPGFLGSLVPVVVETLGDAYPELQRNSAQIANLVSEDEAAFLASLERGRRIID
RTLRTLGPSDMFPAEVAWSLSLCGDLGLPLDMVELMLEEKGVQLDSAGLERLAQEEAQHR
ARQAEPVQKQGLWLDVHALGELQRQGVPPTDDSPKYNYSLRPSGSYEFGTCEAQVLQLYT
EDGTAVASVGKGQRCGLLLDRTNFYAEQGGQASDRGYLVRAGQEDVLFPVARAQVCGGFI
LHEAVAPECLRLGDQVQLHVDEAWRLGCMAKHTATHLLNWALRQTLGPGTEQQGSHLNPE
QLRLDVTTQTPLTPEQLRAVENTVQEAVGQDEAVYMEEVPLALTAQVPGLRSLDEVYPDP
VRVVSVGVPVAHALDPASQAALQTSVELCCGTHLLRTGAVGDLVIIGDRQLSKGTTRLLA
VTGEQAQQARELGQSLAQEVKAATERLSLGSRDVAEALRLSKDIGRLIEAVETAVMPQWQ
RRELLATVKMLQRRANTAIRKLQMGQAAKKTQELLERHSKGPLIVDTVSAESLSVLVKVV
RQLCEQAPSTSVLLLSPQPMGKVLCACQVAQGAMPTFTAEAWALAVCSHMGGKAWGSRVV
AQGTGSTTDLEAALSIAQTYALSQL
Number of residues985
Molecular Weight107339.48
Theoretical pI6.2
GO Classification
Functions
  • ATP binding
  • amino acid binding
  • tRNA binding
  • metal ion binding
  • alanine-tRNA ligase activity
Processes
  • tRNA aminoacylation for protein translation
  • tRNA modification
  • gene expression
  • mitochondrial alanyl-tRNA aminoacylation
  • mitochondrial respiratory chain complex assembly
Components
  • mitochondrion
General FunctionTrna binding
Specific FunctionCatalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID6331226
UniProtKB IDQ5JTZ9
UniProtKB Entry NameSYAM_HUMAN
Cellular LocationMitochondrion
Gene sequence
>lcl|BSEQ0011669|Alanine--tRNA ligase, mitochondrial (AARS2)
ATGGCAGCGTCAGTGGCAGCTGCAGCCCGGAGGCTGCGGCGGGCCATTCGAAGGTCGCCC
GCATGGCGGGGCCTCAGCCATCGGCCGCTCTCATCGGAGCCCCCTGCAGCCAAGGCCTCG
GCCGTGAGGGCCGCCTTTCTGAACTTCTTTCGGGACCGCCATGGCCACCGGCTGGTGCCC
TCCGCTTCCGTGCGGCCCCGCGGCGACCCCAGTTTGCTTTTTGTCAATGCGGGCATGAAC
CAGTTCAAGCCAATCTTTCTGGGCACCGTGGATCCACGAAGCGAGATGGCAGGCTTCCGA
CGTGTGGCCAACAGCCAGAAATGTGTGAGAGCTGGAGGACACCATAACGACCTGGAAGAT
GTGGGTCGAGACCTTTCCCATCATACCTTCTTTGAAATGCTTGGCAATTGGGCCTTTGGG
GGTGAATATTTTAAGGAGGAGGCTTGTAACATGGCCTGGGAACTGCTGACTCAGGTCTAT
GGGATCCCTGAGGAAAGGCTCTGGATCTCCTACTTTGATGGTGACCCCAAGGCAGGGCTG
GACCCAGACCTGGAGACCAGGGACATCTGGCTGAGCTTAGGGGTGCCTGCTAGCCGTGTG
CTTTCCTTTGGACCACAAGAGAACTTCTGGGAGATGGGGGATACTGGCCCTTGTGGGCCC
TGTACTGAGATCCACTACGACCTTGCTGGTGGGGTGGGAGCCCCCCAGCTGGTAGAGCTT
TGGAACCTGGTCTTCATGCAACACAACAGAGAGGCAGATGGAAGCCTGCAGCCCCTGCCC
CAGCGGCATGTGGACACAGGAATGGGCCTGGAAAGGCTGGTGGCTGTGCTGCAAGGCAAA
CACTCCACCTATGACACTGACCTCTTTTCCCCGCTGCTCAACGCCATACAGCAGGGCTGC
AGGGCACCCCCTTACTTGGGCCGAGTAGGGGTGGCAGACGAGGGGCGCACAGACACAGCG
TACCGCGTGGTGGCTGACCACATCCGCACACTCAGTGTCTGCATCTCTGATGGCGTCTTC
CCTGGGATGTCAGGTCCCCCGCTGGTTCTTCGTCGGATCCTGCGTCGAGCTGTGCGTTTC
TCCATGGAGATCTTAAAGGCACCACCTGGCTTCCTAGGCAGCCTGGTACCTGTAGTGGTG
GAGACACTGGGAGATGCTTATCCAGAACTGCAAAGGAACTCAGCCCAGATCGCCAACCTG
GTGTCAGAGGACGAGGCAGCCTTCCTGGCCTCCCTGGAGCGGGGTAGGCGGATCATTGAT
CGGACTCTGAGGACCCTGGGGCCTTCAGATATGTTCCCTGCTGAAGTGGCCTGGTCCTTG
TCACTGTGTGGAGACCTGGGACTCCCCTTGGACATGGTAGAGCTGATGCTGGAGGAGAAA
GGGGTCCAGCTAGACTCCGCTGGACTGGAGCGGTTGGCCCAAGAGGAGGCCCAGCACCGG
GCACGGCAGGCTGAGCCAGTTCAGAAGCAGGGATTGTGGCTTGATGTCCATGCGCTTGGG
GAGCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAAGTACAACTACTCCCTG
CGACCCAGCGGAAGTTATGAGTTCGGCACCTGTGAGGCCCAGGTGTTGCAACTGTATACA
GAGGACGGGACAGCAGTGGCCTCCGTGGGGAAAGGCCAGCGCTGTGGCCTCCTCTTGGAC
AGGACCAACTTCTACGCAGAACAGGGGGGCCAGGCTTCAGACCGTGGCTACCTGGTGCGG
GCAGGGCAAGAGGACGTGCTGTTCCCAGTAGCCCGGGCCCAGGTCTGTGGAGGTTTCATC
CTGCATGAGGCAGTAGCCCCTGAGTGCCTGCGGTTAGGGGACCAGGTGCAGCTGCATGTG
GATGAGGCCTGGCGTCTAGGCTGCATGGCGAAGCATACGGCCACCCACCTGCTGAACTGG
GCACTGAGGCAGACCCTGGGCCCTGGCACAGAGCAGCAGGGCTCCCATCTCAATCCTGAG
CAGCTGCGCTTGGATGTGACCACCCAGACCCCATTGACCCCAGAGCAGCTCCGGGCAGTG
GAGAACACTGTGCAGGAGGCCGTGGGGCAGGATGAGGCTGTGTACATGGAGGAGGTGCCC
CTGGCGCTCACTGCCCAGGTCCCTGGCCTGCGCTCTCTGGATGAGGTTTACCCAGACCCT
GTGCGGGTGGTATCAGTGGGGGTGCCCGTGGCCCATGCATTGGACCCAGCCTCCCAAGCC
GCACTGCAGACCTCTGTGGAGCTATGCTGTGGGACGCACCTGTTACGTACTGGGGCTGTA
GGGGACCTGGTTATCATCGGGGACCGCCAGCTTTCCAAGGGCACTACCCGCCTGCTGGCC
GTCACTGGGGAGCAGGCCCAGCAGGCCCGAGAGCTAGGCCAGAGCCTGGCCCAGGAAGTG
AAAGCGGCCACTGAGCGGCTGAGTCTGGGGAGCCGGGATGTGGCGGAGGCACTGAGGCTG
TCCAAGGACATAGGACGACTCATTGAAGCTGTGGAAACTGCTGTGATGCCCCAGTGGCAG
CGGCGGGAGCTGCTGGCCACAGTGAAGATGCTGCAGCGGCGTGCCAACACTGCCATCCGT
AAGCTGCAAATGGGACAGGCTGCAAAGAAAACTCAGGAGCTGCTGGAGCGGCACTCGAAG
GGGCCTCTGATTGTGGACACAGTCTCTGCTGAGTCTCTCTCAGTGCTGGTGAAGGTGGTA
CGGCAGCTGTGTGAGCAGGCCCCCAGCACGTCTGTGCTCCTACTCAGCCCCCAGCCCATG
GGGAAGGTGCTGTGTGCCTGTCAGGTGGCCCAGGGTGCCATGCCCACCTTCACAGCAGAG
GCCTGGGCACTGGCAGTGTGCAGCCACATGGGGGGCAAGGCGTGGGGCTCACGAGTGGTG
GCCCAAGGCACCGGAAGCACTACTGACCTGGAAGCTGCCCTCAGTATAGCCCAAACCTAT
GCCCTCAGCCAGCTCTGA
GenBank Gene IDAB033096
GeneCard IDNot Available
GenAtlas IDAARS2
HGNC IDHGNC:21022
Chromosome Location6
Locus6p21.1
References
  1. Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1999 Oct 29;6(5):337-45. 10574462
  2. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. 14574404
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  4. Bonnefond L, Fender A, Rudinger-Thirion J, Giege R, Florentz C, Sissler M: Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry. 2005 Mar 29;44(12):4805-16. 15779907
  5. Gotz A, Tyynismaa H, Euro L, Ellonen P, Hyotylainen T, Ojala T, Hamalainen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A: Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5. 21549344
  6. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  7. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  8. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS: Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7. 24808023
  9. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. 25944712