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Aliases for AARS Gene

Aliases for AARS Gene

  • Alanyl-TRNA Synthetase 2 3 4 5
  • Renal Carcinoma Antigen NY-REN-42 3 4
  • EC 6.1.1.7 4 63
  • AlaRS 3 4
  • Alanyl-TRNA Synthetase, Cytoplasmic 3
  • Alanine TRNA Ligase 1, Cytoplasmic 3
  • Alanine TRNA Ligase 1 2
  • Cytoplasmic 2
  • EC 6.1.1 63
  • EIEE29 3
  • CMT2N 3

External Ids for AARS Gene

Previous GeneCards Identifiers for AARS Gene

  • GC16M060988
  • GC16M070706
  • GC16M070021
  • GC16M070062
  • GC16M068843
  • GC16M070286
  • GC16M056119

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 Epileptic Encephalopathy, Early Infantile, 29 and Charcot-Marie-Tooth Disease, Axonal, Type 2N. Among its related pathways are tRNA Aminoacylation and Gene Expression. GO annotations related to this gene include nucleic acid binding and tRNA binding. 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

Regulatory Elements for AARS Gene

Enhancers for AARS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AARS on UCSC Golden Path with GeneCards custom track

Promoters for AARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AARS on UCSC Golden Path with GeneCards custom track

Genomic Location for AARS Gene

Chromosome:
16
Start:
70,252,295 bp from pter
End:
70,289,550 bp from pter
Size:
37,256 bases
Orientation:
Minus strand

Genomic View for AARS Gene

Genes around AARS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AARS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AARS Gene

    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.
  • Ubiquitination at Lys 19, Lys 384, Lys 677, Lys 747, Lys 762, Lys 820, and Lys 846
  • Modification sites at PhosphoSitePlus

Other Protein References for AARS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AARS Gene

Gene Families for AARS Gene

Suggested Antigen Peptide Sequences for AARS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49588

UniProtKB/Swiss-Prot:

SYAC_HUMAN :
  • 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.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
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.
  • 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.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
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 BiophysicochemicalProperties:
Kinetic parameters: KM=3.1 uM for tRNA(Ala) (at 37 Celsius) {ECO:0000269 PubMed:25817015}; Note=kcat is 0.4 sec(-1). {ECO:0000269 PubMed:25817015};
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:0002161 aminoacyl-tRNA editing activity IEA --
GO:0016876 ligase activity, forming aminoacyl-tRNA and related compounds IEA --
genes like me logo Genes that share ontologies with AARS: view
genes like me logo Genes that share phenotypes with AARS: view

Human Phenotype Ontology for AARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AARS Gene

MGI Knock Outs for AARS:

Animal Model Products

  • Taconic Biosciences Mouse Models for AARS

No data available for Transcription Factor Targets 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 5
extracellular 5
mitochondrion 3
nucleus 3
chloroplast 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AARS Gene

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

Pathways & Interactions 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:0006400 tRNA modification IEA,IBA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006457 protein folding IEA --
GO:0010467 gene expression TAS --
GO:0034620 cellular response to unfolded protein IEA --
genes like me logo Genes that share ontologies with AARS: view

No data available for SIGNOR curated interactions for AARS Gene

Drugs & Compounds for AARS Gene

(7) Drugs for AARS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(5) Additional Compounds for AARS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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

Protein differential expression in normal tissues from HIPED for AARS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.3) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for AARS Gene



SOURCE GeneReport for Unigene cluster for AARS Gene Hs.315137

genes like me logo Genes that share expression patterns with AARS: view

Protein tissue co-expression partners for AARS Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AARS Gene

Orthologs for AARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AARS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AARS 35
  • 89.98 (n)
  • 95.45 (a)
AARS 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AARS 35
  • 90.98 (n)
  • 95.97 (a)
AARS 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aars 35
  • 88.05 (n)
  • 95.56 (a)
Aars 16
Aars 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AARS 35
  • 99.17 (n)
  • 99.48 (a)
AARS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aars 35
  • 88.05 (n)
  • 95.14 (a)
oppossum
(Monodelphis domestica)
Mammalia AARS 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AARS 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves AARS 35
  • 80.41 (n)
  • 87.72 (a)
AARS 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AARS 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aars 35
  • 73.76 (n)
  • 83.16 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6413 35
zebrafish
(Danio rerio)
Actinopterygii aars 35
  • 74.16 (n)
  • 81.97 (a)
aars 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aats-ala 37
  • 59 (a)
Aats-ala-m 37
  • 34 (a)
Aats-ala 35
  • 61.12 (n)
  • 61.51 (a)
Aats-ala 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009701 35
  • 60.1 (n)
  • 61.13 (a)
worm
(Caenorhabditis elegans)
Secernentea ars-1 37
  • 38 (a)
ars-2 37
  • 57 (a)
aars-2 35
  • 57.52 (n)
  • 58.86 (a)
aars-2 36
  • 57 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR363C 35
  • 54.87 (n)
  • 49.63 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02431g 35
  • 53.55 (n)
  • 50.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALA1 35
  • 53.84 (n)
  • 52.03 (a)
ALA1 36
  • 50 (a)
OneToMany
ALA1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ALATS 35
  • 53.08 (n)
  • 50.75 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1412 35
rice
(Oryza sativa)
Liliopsida Os.11722 35
Os10g0182000 35
  • 54.25 (n)
  • 50.48 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2136 35
corn
(Zea mays)
Liliopsida Zm.3875 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1737 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02566 35
  • 54.22 (n)
  • 47.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ala1 35
  • 53.38 (n)
  • 49.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
rs11537667 - 70,269,756(-) CACAG(A/G)TGCCC nc-transcript-variant, reference, missense
VAR_063527 Charcot-Marie-Tooth disease 2N (CMT2N)
VAR_067084 Charcot-Marie-Tooth disease 2N (CMT2N)
VAR_073293 -
VAR_073719 Epileptic encephalopathy, early infantile, 29 (EIEE29)

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

Variation tolerance for AARS Gene

Residual Variation Intolerance Score: 4.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.63; 78.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AARS Gene

Human Gene Mutation Database (HGMD)
AARS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AARS Gene

Disorders for AARS Gene

MalaCards: The human disease database

(18) MalaCards diseases for AARS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 29
  • eiee29
charcot-marie-tooth disease, axonal, type 2n
  • cmt2n
charcot-marie-tooth disease type 2n
  • charcot-marie-tooth disease, axonal, type 2n
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2s
charcot-marie-tooth disease, axonal, type 2s
  • ar-cmt2
- elite association - COSMIC cancer census association via MalaCards
Search AARS in MalaCards View complete list of genes associated with diseases

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.
  • Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination. {ECO:0000269 PubMed:25817015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AARS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AARS
genes like me logo Genes that share disorders with AARS: view

No data available for Genatlas for AARS Gene

Publications for AARS Gene

  1. 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 67
  2. 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
  3. Minor groove recognition of the critical acceptor helix base pair by an appended module of a class II tRNA synthetase. (PMID: 7742303) Buechter D.D. … Schimmel P. (Biochemistry 1995) 23 25 26
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for AARS Gene

Sources for AARS Gene

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