AARS Gene
protein-coding GIFtS: 66
GCID: GC16M070286
|
|
alanyl-tRNA synthetase
| |
Aliases
for AARS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Alanyl-TRNA Synthetase1 2 3 | | Alanine TRNA Ligase 1, Cytoplasmic2 | | Renal Carcinoma Antigen NY-REN-422 3 | | Alanine--TRNA Ligase, Cytoplasmic2 | | EC 6.1.1.73 8 | | Alanyl-TRNA Synthetase, Cytoplasmic2 | | CMT2N2 5 | | AlaRS3 | | AlaRS3 | | EC 6.1.18 |
Export aliases for AARS gene to outside databasesPrevious GC identifers: GC16M060988 GC16M070706 GC16M070021 GC16M070062 GC16M068843 GC16M056119 |
Summaries
for AARS gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AARS:
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNAsynthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes thatinterpret 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 asecond domain which interacts with the rest of the tRNA structure. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP toform Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via itsediting domain (By similarity)
|
Genomic Views
for AARS gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010498.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AARS gene promoter:
Elk-1 C/EBPbeta Pbx1a ATF-2 GATA-2 MZF-1 CRE-BP1 E2F E2F-1 NF-Y
Other transcription factors
Search SABiosciences Chromatin IP Primers for AARS
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AARS |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q22 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22AARS Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M070286: view genomic region
(about GC identifiers)
Start:
|
70,286,293 bp from pter |
End:
|
70,323,446 bp from pter |
Size:
|
37,154 bases |
Orientation:
|
minus strand |
|
Proteins
for AARS gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588 (See
protein sequence)Recommended Name: Alanine--tRNA ligase, cytoplasmic Size: 968 amino acids; 106810 Da
Cofactor: Binds 1 zinc ion per subunit (Potential)
Subunit: Monomer
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: A6NF14 Q53GV7 Q96FA0Explore the universe of human proteins at neXtProt for AARS: NX_P49588
Post-translational modifications:
ISGylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P49588
4/39 DME Specific Peptides for AARS (P49588) (see all 39)
AARS Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001596.2
ENSEMBL proteins: ENSP00000261772 ENSP00000455360 Reactome Protein details: P49588
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
AARS for ontologies About GeneDecksing
AARS Antibody Products:
Assay Products for AARS: |
Protein
Domains /
Families
for AARS gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AARS for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P49588ProtoNet protein and cluster: P49588 2 Blocks protein families: IPB002318 Alanyl-tRNA synthetase signature IPB003156 Phosphoesterase
UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588Domain: 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 abridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation ofmisacylated tRNAs (By similarity)Domain: The C-terminal C-Ala domain (residues 756 to 968), along with tRNA(Ala), serves as a bridge to cooperativelybring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs. The humandomain can be used in vitro to replace the corresponding domain in E.coliSimilarity: Belongs to the class-II aminoacyl-tRNA synthetase family |
Function
for AARS gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP toform Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via itsediting domain (By similarity)Catalytic activity: ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala) Genatlas biochemistry entry for AARS:alanyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis
Enzyme Numbers (IUBMB): EC 6.1.1.71 2 EC 6.1.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AARS (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AARS
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AARS (NM_001605) | |  | Sino Biological Human cDNA Clone for AARS | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AARS | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AARS |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
AARS for ontologies About GeneDecksing
Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aars):
AARS for phenotypes About GeneDecksing
|
Pathways & Interactions
for AARS gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | tRNA Aminoacylation | | | 2 | Generic Transcription Pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 
Reactome Pathways for AARS
1 
Kegg Pathway (Kegg details for AARS):
AARS for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AARS
STRING Interaction
Network Preview (showing 5 interactants - click image to see 16)
5/105 Interacting proteins for AARS (P495882, 3 ENSP000002617724) via UniProtKB, MINT, STRING, and/or I2D (see all 105)About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table | 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 |
-- | -- |
AARS for ontologies About GeneDecksing
|
Drugs & Compounds
for AARS gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
AARS for compounds About GeneDecksing
 Browse Tocris compounds for AARS
5 HMDB Compounds for AARS About this table
1 DrugBank Compound for AARS About this table
7 Novoseek chemical compound relationships for AARS gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| aminoacyl-trna |
94.5 |
33 |
8286437 (1), 9358165 (1), 11310981 (1), 12421319 (1) (see all 27) |
| trna |
87.1 |
67 |
17704131 (3), 19549823 (3), 12554667 (2), 18437305 (2) (see all 29) |
| anticodon |
74.1 |
5 |
8286437 (1), 11310981 (1), 18611382 (1), 18322459 (1) |
| smpb |
70.7 |
2 |
11904185 (1), 16381838 (1) |
| alanine |
33.4 |
2 |
19661429 (1), 11737633 (1) |
| serine |
14 |
1 |
19661429 (1) |
| atp |
0 |
2 |
8422978 (1) |
Search CenterWatch for drugs/clinical trials and news about AARS / SYAC
|
Transcripts
for AARS gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AARS gene: NM_001605.2 Unigene Cluster for AARS: Alanyl-tRNA synthetase Hs.315137 [show with all ESTs]Unigene Representative Sequence: AK2228247 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000261772(uc010vlu.1 uc002eyn.1) ENST00000569825 ENST00000565361
ENST00000564359 ENST00000567490 ENST00000569790 ENST00000566969
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AARS (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AARS
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AARS (NM_001605) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AARS | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AARS |
Additional cDNA sequence: AK222824.1 AK225116.1 AK299098.1 AK307782.1 BC011451.1 D32050.1 22 DOTS entries: DT.448485 DT.95262752 DT.100774719 DT.95262736 DT.95262747 DT.95262749 DT.95262734 DT.100034176 DT.100834181 DT.120712453 DT.40115644 DT.40115645 DT.80100249 DT.91960082 DT.92454788 DT.92454789 DT.95090763 DT.95262748 DT.99987249 DT.120712433 DT.428242 DT.91904558 24/635 AceView cDNA sequences (see all 635): CA391110 AW087287 BQ942704 BM458701 BG177128 CD108691 AW499006 BQ059483 BM665773 F09721 CA388784 BF591356 BU195311 CA397863 BQ058121 BM455338 BQ063223 BC011451 BM771662 BM794087 D32050 BU626304 BU178772 BP357328
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AARS (see all 6) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 21 | ^ | 22a | · | 22b |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for AARS
|
Expression
for AARS gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AARS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTTCACGG
About this image
See AARS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AARS
SOURCE GeneReport for Unigene cluster: Hs.315137
SABiosciences Custom PCR Arrays for AARS
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AARS
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AARS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AARS | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AARS | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS |
Orthologs
for AARS gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for AARS gene from 10/42 species (see all 42) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
AARS1 |
alanyl-tRNA synthetase |
80.41(n)
87.72(a) |
|
415668 NM_001005836.1 NP_001005836.1 |
lizard
(Anolis carolinensis) |
Reptilia |
AARS6 |
-- |
86(a) |
1 ↔ 1 |
GL343295.1(1250842-1272619) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.64132 |
Xenopus laevis transcribed sequence with strong similarity more |
78.25(n) |
|
CF520057.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
aars1 |
alanyl-tRNA synthetase |
74.16(n)
81.97(a) |
|
324940 NM_001044310.2 NP_001037775.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Aats-ala1 , 3 |
alanyl-tRNA aminoacylation alanine-tRNA
ligase3
Alanyl-tRNA synthetase1 |
59(a)
(best of 2)3
61.16(n)1
61.4(a)1 |
|
29B33
341561 NM_078787.31 NP_523511.21 |
worm
(Caenorhabditis elegans) |
Secernentea |
ars-23
aars-21 |
aminoacyl-tRNA synthetase3
Protein AARS-21 |
57(a)
(best of 2)3
57.73(n)1
59.03(a)1 |
|
I(3983207-3986386)3
1719851 NM_058880.21 NP_491281.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
ALA1(YOR335C)4
ALA11 |
Cytoplasmic and mitochondrial alanyl-tRNA synthetase, more4
Ala1p1 |
53.97(n)1
52.21(a)1 |
|
15(949109-946233)4
8545131, 4 NP_014980.31 NP_014980.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ALATS1 |
Alanyl-tRNA synthetase |
53.19(n)
50.86(a) |
|
841442 NM_001198257.1 NP_001185186.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.117222 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
75.62(n) |
|
AK066368.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
alaS6 |
alanyl-tRNA synthetase |
39(a) |
possible ortholog |
Chromosome(2817403-2820033) |
ENSEMBL Gene Tree for AARS (if available)
TreeFam Gene Tree for AARS (if available) |
Paralogs
for AARS gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AARS gene
- AARS22
1 SIMAP similar gene for AARS using alignment to 2 protein entries: SYAC_HUMAN (see all proteins):AARS2
AARS for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for AARS
PGOHUM00000246081
|
Genomic Variants
for AARS gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AARS (70286293 - 70323446 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for AARS
3 CNVs: 4009 4964 7125
Human Gene Mutation Database (HGMD): AARS
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AARS |
|
Disorders
/ Diseases
for AARS gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AARS for disorders About GeneDecksing
OMIM gene information: 601065
OMIM disorders: 613287
UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588
Defects in AARS are the cause of Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287]. It is an axonalform of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressiveweakness 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 andhistopathology: primary peripheral demyelinating neuropathies(designated CMT1 when they are dominantly inherited) andprimary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonalregeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, andprogressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced
20/28  diseases for AARS (see all 28): About MalaCardscharcot-marie-tooth disease charcot-marie-tooth disease, axonal, type 2n charcot-marie-tooth disease type 2 renal carcinoma
tooth disease type 1 diabetes mellitus axonal neuropathy carcinoma
idiopathic pulmonary fibrosis mitochondrial cardiomyopathy diabetes mellitus pulmonary fibrosis
interstitial lung disease myositis appendicitis renal cell carcinoma
polymyositis lip cancer dermatomyositis fibrosis
1 disease from the University of Copenhagen DISEASES database for AARS:Lip cancer 2 Novoseek disease relationships for AARS gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| myositis |
59.3 |
1 |
16085368 (1) |
| myopathies idiopathic inflammatory |
54.2 |
1 |
16085368 (1) |
Export disorders for AARS gene to outside databases
|
Publications
for AARS gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AARS gene, integrated from 9 sources (see all 119):
(articles sorted by number of sources associating them with AARS) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. (PubMed id 20045102)1, 2, 9 Latour P....Rousson R. (2010)
- Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition. (PubMed id 7654687)1, 2, 9 Shiba K....Schimmel P. (1995)
- 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. (PubMed id 8595897)1, 3, 9 Nichols R.C....Liu P. (1995)
- A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). (PubMed id 22009580)1, 2 McLaughlin H.M.... Antonellis A. (2012)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)
- The C-Ala domain brings together editing and aminoacylation functions on one tRNA. (PubMed id 19661429)2, 9 Guo M.... Schimmel P. (2009)
- Wide cross-species aminoacyl-tRNA synthetase replacement in vivo: yeast cytoplasmic alanine enzyme replaced by human polymyositis serum antigen. (PubMed id 7761427)1, 9 Ripmaster T.L....Schimmel P. (1995)
- Minor groove recognition of the critical acceptor hel ix base pair by an appended module of a class II tRNA synthetase. (PubMed id 7742303)7, 9 Buechter D.D. and Schimmel P. (1995)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
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External Searches for AARS gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing AARS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing AARS gene
(According to HUGE)
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Specialized Databases showing AARS gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for AARS | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for AARS gene:
Search GeneIP for patents involving AARS
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for AARS gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AARS | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AARS | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AARS | | | OriGene Protein Over-expression Lysate for AARS | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AARS | | OriGene 3'-UTR Clone for AARS | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AARS | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AARS | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for AARS | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AARS | | OriGene Custom Protein Services for AARS | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AARS | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AARS | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AARS | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AARS | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AARS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AARS |
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| | | | Search Tocris compounds for AARS |
| |  |  |  |  | | | | | | Recombinant Protein for AARS |
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 | | | AARS Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS |
|  |  |  | | | | ThermoFisher Antibodies for AARS |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AARS |
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