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Aliases for AARS Gene

Aliases for AARS Gene

  • Alanyl-TRNA Synthetase 2 3 4
  • Renal Carcinoma Antigen NY-REN-42 3 4
  • EC 6.1.1.7 4 64
  • AlaRS 3 4
  • CMT2N 3 6
  • Alanyl-TRNA Synthetase, Cytoplasmic 3
  • Alanine TRNA Ligase 1, Cytoplasmic 3
  • Alanine--TRNA Ligase, Cytoplasmic 3
  • Alanine TRNA Ligase 1 2
  • Cytoplasmic 2
  • EC 6.1.1 64

External Ids for AARS Gene

Summaries for AARS Gene

Entrez Gene Summary for AARS Gene

  • The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]

GeneCards Summary for AARS Gene

AARS (Alanyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with AARS include autosomal dominant charcot-marie-tooth disease type 2n and charcot-marie-tooth neuropathy type 2n. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include tRNA binding and aminoacyl-tRNA editing activity. An important paralog of this gene is AARS2.

UniProtKB/Swiss-Prot for AARS Gene

  • Catalyzes 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AARS Gene

Genomics for AARS Gene

Genomic Location for AARS Gene

Start:
70,252,295 bp from pter
End:
70,289,555 bp from pter
Size:
37,261 bases
Orientation:
Minus strand

Genomic View for AARS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AARS Gene

Regulatory Elements for AARS Gene

Proteins for AARS Gene

  • Protein details for AARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49588-SYAC_HUMAN
    Recommended name:
    Alanine--tRNA ligase, cytoplasmic
    Protein Accession:
    P49588
    Secondary Accessions:
    • A6NF14
    • B4DR45
    • Q53GV7
    • Q96FA0

    Protein attributes for AARS Gene

    Size:
    968 amino acids
    Molecular mass:
    106810 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Monomer

    Alternative splice isoforms for AARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AARS Gene

Proteomics data for AARS Gene at MOPED

Post-translational modifications for AARS Gene

  • ISGylated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys19, Lys384, Lys677, Lys747, Lys762, Lys820, Lys846, and Lys876

Other Protein References for AARS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for AARS Gene

Gene Families for AARS Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

UniProtKB/Swiss-Prot:

SYAC_HUMAN
Domain:
  • Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.:
    • P49588
  • The C-terminal C-Ala domain (residues 756 to 968), along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs. The human domain can be used in vitro to replace the corresponding domain in E.coli.:
    • P49588
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.:
    • P49588
genes like me logo Genes that share domains with AARS: view

Function for AARS Gene

Molecular function for AARS Gene

GENATLAS Biochemistry: alanyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis
UniProtKB/Swiss-Prot CatalyticActivity: ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala).
UniProtKB/Swiss-Prot Function: Catalyzes 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.

Enzyme Numbers (IUBMB) for AARS Gene

Gene Ontology (GO) - Molecular Function for AARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0003676 nucleic acid binding --
GO:0004813 alanine-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with AARS: view
genes like me logo Genes that share phenotypes with AARS: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for AARS Gene

Localization for AARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for AARS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AARS Gene COMPARTMENTS Subcellular localization image for AARS gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with AARS: view

Pathways for AARS Gene

genes like me logo Genes that share pathways with AARS: view

Pathways by source for AARS Gene

1 KEGG pathway for AARS Gene

Gene Ontology (GO) - Biological Process for AARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006400 tRNA modification IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006419 alanyl-tRNA aminoacylation IEA --
GO:0006450 regulation of translational fidelity IEA --
genes like me logo Genes that share ontologies with AARS: view

Compounds for AARS Gene

(5) HMDB Compounds for AARS Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Alanine
  • (2S)-2-Aminopropanoate
56-41-7
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for AARS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Alanine
  • (2S)-2-Aminopropanoic acid
56-41-7 target

(7) Novoseek inferred chemical compound relationships for AARS Gene

Compound -log(P) Hits PubMed IDs
aminoacyl-trna 94.5 27
trna 87.1 39
anticodon 74.1 4
smpb 70.7 2
alanine 33.4 2
genes like me logo Genes that share compounds with AARS: view

Transcripts for AARS Gene

Unigene Clusters for AARS Gene

Alanyl-tRNA synthetase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AARS Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^
SP1: - - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:

ExUns: 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for AARS Gene

GeneLoc Exon Structure for
AARS
ECgene alternative splicing isoforms for
AARS

Expression for AARS Gene

mRNA expression in normal human tissues for AARS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AARS Gene

SOURCE GeneReport for Unigene cluster for AARS Gene Hs.315137

genes like me logo Genes that share expressions with AARS: view

Orthologs for AARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AARS 36
  • 99.17 (n)
  • 99.48 (a)
AARS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AARS 36
  • 89.98 (n)
  • 95.45 (a)
AARS 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AARS 36
  • 90.98 (n)
  • 95.97 (a)
AARS 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aars 36
  • 88.05 (n)
  • 95.56 (a)
Aars 16
Aars 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AARS 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AARS 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aars 36
  • 88.05 (n)
  • 95.14 (a)
chicken
(Gallus gallus)
Aves AARS 36
  • 80.41 (n)
  • 87.72 (a)
AARS 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AARS 37
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6413 36
tropical clawed frog
(Silurana tropicalis)
Amphibia aars 36
  • 73.76 (n)
  • 83.16 (a)
zebrafish
(Danio rerio)
Actinopterygii aars 36
  • 74.16 (n)
  • 81.97 (a)
aars 37
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009701 36
  • 60.1 (n)
  • 61.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-ala 36
  • 61.12 (n)
  • 61.51 (a)
Aats-ala 37
  • 61 (a)
OneToOne
Aats-ala 38
  • 59 (a)
Aats-ala-m 38
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea aars-2 36
  • 57.52 (n)
  • 58.86 (a)
aars-2 37
  • 57 (a)
OneToOne
ars-2 38
  • 57 (a)
ars-1 38
  • 38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR363C 36
  • 54.87 (n)
  • 49.63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALA1 36
  • 53.84 (n)
  • 52.03 (a)
ALA1 37
  • 50 (a)
OneToMany
ALA1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02431g 36
  • 53.55 (n)
  • 50.96 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALATS 36
  • 53.08 (n)
  • 50.75 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1412 36
corn
(Zea mays)
Liliopsida Zm.3875 36
rice
(Oryza sativa)
Liliopsida Os.11722 36
Os10g0182000 36
  • 54.25 (n)
  • 50.48 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2136 36
bread mold
(Neurospora crassa)
Ascomycetes NCU02566 36
  • 54.22 (n)
  • 47.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ala1 36
  • 53.38 (n)
  • 49.68 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1737 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 59 (a)
OneToOne
Species with no ortholog for AARS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AARS Gene

ENSEMBL:
Gene Tree for AARS (if available)
TreeFam:
Gene Tree for AARS (if available)

Paralogs for AARS Gene

Paralogs for AARS Gene

Selected SIMAP similar genes for AARS Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for AARS Gene

genes like me logo Genes that share paralogs with AARS: view

Variants for AARS Gene

Sequence variations from dbSNP and Humsavar for AARS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs775197 -- 70,287,224(-) aggct(C/G)gagtg intron-variant
rs775198 -- 70,287,179(-) ctccc(A/G)ggttc intron-variant
rs775199 -- 70,287,171(-) ttcac(A/G)ccatt intron-variant
rs775200 -- 70,287,124(-) acagg(C/T)gcccg intron-variant
rs775201 -- 70,287,117(-) cccgc(C/T)accac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AARS Gene

Variant ID Type Subtype PubMed ID
dgv895e1 CNV Complex 17122850
nsv428328 CNV Gain+Loss 18775914
esv33745 CNV Gain+Loss 17666407
dgv896e1 CNV Complex 17122850
nsv7285 OTHER Inversion 18451855
nsv833271 CNV Gain+Loss 17160897
nsv906868 CNV Loss 21882294
nsv906869 CNV Loss 21882294
nsv906870 CNV Loss 21882294
dgv2903n71 CNV Gain 21882294

Relevant External Links for AARS Gene

HapMap Linkage Disequilibrium report
AARS
Human Gene Mutation Database (HGMD)
AARS

Disorders for AARS Gene

(1) OMIM Diseases for AARS Gene (601065)

UniProtKB/Swiss-Prot

SYAC_HUMAN
  • Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:20045102, ECO:0000269 PubMed:22009580, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for AARS Gene

(2) Novoseek inferred disease relationships for AARS Gene

Disease -log(P) Hits PubMed IDs
myositis 59.3 1
myopathies idiopathic inflammatory 54.2 1
genes like me logo Genes that share disorders with AARS: view

Publications for AARS Gene

  1. Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22. (PMID: 8595897) Nichols R.C. … Liu P. (Genomics 1995) 2 3 23
  2. Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition. (PMID: 7654687) Shiba K. … Schimmel P. (Biochemistry 1995) 3 4 23
  3. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. (PMID: 20045102) Latour P. … Rousson R. (Am. J. Hum. Genet. 2010) 3 4 23
  4. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 3 4
  5. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). (PMID: 22009580) McLaughlin H.M. … Antonellis A. (Hum. Mutat. 2012) 3 4

Products for AARS Gene

Sources for AARS Gene

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