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AARSD1 (alanyl-tRNA synthetase domain containing 1)

Identity

Alias_symbol (synonym)MGC2744
Other alias-
HGNC (Hugo) AARSD1
LocusID (NCBI) 80755
Atlas_Id 60021
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 42950526 and ends at 42964498 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AARSD1 (17q21.31) / DIABLO (12q24.31)AARSD1 (17q21.31) / FBXL20 (17q12)CELF2 (10p14) / AARSD1 (17q21.31)
PTGES3L (17q21.31) / AARSD1 (17q21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AARSD1   28417
Cards
Entrez_Gene (NCBI)AARSD1  80755  alanyl-tRNA synthetase domain containing 1
Aliases
GeneCards (Weizmann)AARSD1
Ensembl hg19 (Hinxton)ENSG00000266967 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000266967 [Gene_View]  chr17:42950526-42964498 [Contig_View]  AARSD1 [Vega]
ICGC DataPortalENSG00000266967
TCGA cBioPortalAARSD1
AceView (NCBI)AARSD1
Genatlas (Paris)AARSD1
WikiGenes80755
SOURCE (Princeton)AARSD1
Genetics Home Reference (NIH)AARSD1
Genomic and cartography
GoldenPath hg38 (UCSC)AARSD1  -     chr17:42950526-42964498 -  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AARSD1  -     17q21.31   [Description]    (hg19-Feb_2009)
EnsemblAARSD1 - 17q21.31 [CytoView hg19]  AARSD1 - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIAARSD1 [Mapview hg19]  AARSD1 [Mapview hg38]
OMIM613212   
Gene and transcription
Genbank (Entrez)AK309477 AL515977 AW296090 BP368900 CA951145
RefSeq transcript (Entrez)NM_001261434
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AARSD1
Cluster EST : UnigeneHs.317403 [ NCBI ]
CGAP (NCI)Hs.317403
Alternative Splicing GalleryENSG00000266967
Gene ExpressionAARSD1 [ NCBI-GEO ]   AARSD1 [ EBI - ARRAY_EXPRESS ]   AARSD1 [ SEEK ]   AARSD1 [ MEM ]
Gene Expression Viewer (FireBrowse)AARSD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80755
GTEX Portal (Tissue expression)AARSD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BTE6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BTE6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BTE6
Splice isoforms : SwissVarQ9BTE6
PhosPhoSitePlusQ9BTE6
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II_ALA (PS50860)   
Domains : Interpro (EBI)Ala-tRNA-synth_IIc_core    Ala-tRNA-synth_IIc_N    Thr/Ala-tRNA-synth_IIc_edit    Transl_B-barrel    tRNA_SAD   
Domain families : Pfam (Sanger)tRNA-synt_2c (PF01411)    tRNA_SAD (PF07973)   
Domain families : Pfam (NCBI)pfam01411    pfam07973   
Domain families : Smart (EMBL)tRNA_SAD (SM00863)  
Conserved Domain (NCBI)AARSD1
DMDM Disease mutations80755
Blocks (Seattle)AARSD1
SuperfamilyQ9BTE6
Human Protein AtlasENSG00000266967
Peptide AtlasQ9BTE6
HPRD14524
IPIIPI00914584   IPI00917519   IPI00748490   IPI00916940   IPI00916062   IPI00916183   IPI00917638   IPI00916014   IPI00916686   IPI00916173   IPI00915885   IPI00916522   IPI00917260   IPI00916841   
Protein Interaction databases
DIP (DOE-UCLA)Q9BTE6
IntAct (EBI)Q9BTE6
FunCoupENSG00000266967
BioGRIDAARSD1
STRING (EMBL)AARSD1
ZODIACAARSD1
Ontologies - Pathways
QuickGOQ9BTE6
Ontology : AmiGOSer-tRNA(Ala) hydrolase activity  molecular_function  nucleic acid binding  alanine-tRNA ligase activity  ATP binding  nucleus  cytoplasm  alanyl-tRNA aminoacylation  regulation of translational fidelity  biological_process  metal ion binding  
Ontology : EGO-EBISer-tRNA(Ala) hydrolase activity  molecular_function  nucleic acid binding  alanine-tRNA ligase activity  ATP binding  nucleus  cytoplasm  alanyl-tRNA aminoacylation  regulation of translational fidelity  biological_process  metal ion binding  
NDEx NetworkAARSD1
Atlas of Cancer Signalling NetworkAARSD1
Wikipedia pathwaysAARSD1
Orthology - Evolution
OrthoDB80755
GeneTree (enSembl)ENSG00000266967
Phylogenetic Trees/Animal Genes : TreeFamAARSD1
HOVERGENQ9BTE6
HOGENOMQ9BTE6
Homologs : HomoloGeneAARSD1
Homology/Alignments : Family Browser (UCSC)AARSD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAARSD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AARSD1
dbVarAARSD1
ClinVarAARSD1
1000_GenomesAARSD1 
Exome Variant ServerAARSD1
ExAC (Exome Aggregation Consortium)AARSD1 (select the gene name)
Genetic variants : HAPMAP80755
Genomic Variants (DGV)AARSD1 [DGVbeta]
DECIPHERAARSD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAARSD1 
Mutations
ICGC Data PortalAARSD1 
TCGA Data PortalAARSD1 
Broad Tumor PortalAARSD1
OASIS PortalAARSD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAARSD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAARSD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AARSD1
DgiDB (Drug Gene Interaction Database)AARSD1
DoCM (Curated mutations)AARSD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AARSD1 (select a term)
intoGenAARSD1
Cancer3DAARSD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613212   
Orphanet
MedgenAARSD1
Genetic Testing Registry AARSD1
NextProtQ9BTE6 [Medical]
TSGene80755
GENETestsAARSD1
Target ValidationAARSD1
Huge Navigator AARSD1 [HugePedia]
snp3D : Map Gene to Disease80755
BioCentury BCIQAARSD1
ClinGenAARSD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80755
Chemical/Pharm GKB GenePA142670464
Clinical trialAARSD1
Miscellaneous
canSAR (ICR)AARSD1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAARSD1
EVEXAARSD1
GoPubMedAARSD1
iHOPAARSD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:36:59 CEST 2017

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