Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HARS1 (histidyl-tRNA synthetase 1)

Identity

Alias_namesUSH3B
HARS
Usher syndrome 3B
histidyl-tRNA synthetase
Alias_symbol (synonym)HisRS
Other aliasCMT2W
HRS
HGNC (Hugo) HARS1
LocusID (NCBI) 3035
Atlas_Id 49937
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 140673904 and ends at 140691727 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HARS 5q31.3 / CLINT1 5q33.3HARS 5q31.3 / FAM53C 5q31.2
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


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  HARS/FAM53C (5q31)
t(5;5)(q31;q33) HARS/CLINT1


External links

Nomenclature
HGNC (Hugo)HARS1   4816
Cards
Entrez_Gene (NCBI)HARS1  3035  histidyl-tRNA synthetase 1
AliasesCMT2W; HARS; HRS; USH3B
GeneCards (Weizmann)HARS1
Ensembl hg19 (Hinxton)ENSG00000170445 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170445 [Gene_View]  ENSG00000170445 [Sequence]  chr5:140673904-140691727 [Contig_View]  HARS1 [Vega]
ICGC DataPortalENSG00000170445
TCGA cBioPortalHARS1
AceView (NCBI)HARS1
Genatlas (Paris)HARS1
WikiGenes3035
SOURCE (Princeton)HARS1
Genetics Home Reference (NIH)HARS1
Genomic and cartography
GoldenPath hg38 (UCSC)HARS1  -     chr5:140673904-140691727 -  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HARS1  -     -   [Description]    (hg19-Feb_2009)
GoldenPathHARS1 - - [CytoView hg19]  HARS1 - - [CytoView hg38]
ImmunoBaseENSG00000170445
Mapping of homologs : NCBIHARS1 [Mapview hg19]  HARS1 [Mapview hg38]
OMIM142810   614504   616625   
Gene and transcription
Genbank (Entrez)AK000498 AK055917 AK094406 AK124831 AK225776
RefSeq transcript (Entrez)NM_001258040 NM_001258041 NM_001258042 NM_001289092 NM_001289093 NM_001289094 NM_002109
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HARS1
Cluster EST : UnigeneHs.528050 [ NCBI ]
CGAP (NCI)Hs.528050
Alternative Splicing GalleryENSG00000170445
Gene ExpressionHARS1 [ NCBI-GEO ]   HARS1 [ EBI - ARRAY_EXPRESS ]   HARS1 [ SEEK ]   HARS1 [ MEM ]
Gene Expression Viewer (FireBrowse)HARS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3035
GTEX Portal (Tissue expression)HARS1
Human Protein AtlasENSG00000170445-HARS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12081   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12081  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12081
Splice isoforms : SwissVarP12081
Catalytic activity : Enzyme6.1.1.21 [ Enzyme-Expasy ]   6.1.1.216.1.1.21 [ IntEnz-EBI ]   6.1.1.21 [ BRENDA ]   6.1.1.21 [ KEGG ]   
PhosPhoSitePlusP12081
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II (PS50862)    WHEP_TRS_1 (PS00762)    WHEP_TRS_2 (PS51185)   
Domains : Interpro (EBI)aa-tRNA-synth_II    Anticodon-bd    Anticodon-bd_dom_sf    His-tRNA-ligase    HisRS/HisZ    HisRS_anticodon    S15_NS1_RNA-bd    WHEP-TRS_dom   
Domain families : Pfam (Sanger)HGTP_anticodon (PF03129)    WHEP-TRS (PF00458)   
Domain families : Pfam (NCBI)pfam03129    pfam00458   
Domain families : Smart (EMBL)WHEP-TRS (SM00991)  
Conserved Domain (NCBI)HARS1
DMDM Disease mutations3035
Blocks (Seattle)HARS1
PDB (RSDB)1X59    2LW7    4G84    4G85    4PHC    4X5O   
PDB Europe1X59    2LW7    4G84    4G85    4PHC    4X5O   
PDB (PDBSum)1X59    2LW7    4G84    4G85    4PHC    4X5O   
PDB (IMB)1X59    2LW7    4G84    4G85    4PHC    4X5O   
Structural Biology KnowledgeBase1X59    2LW7    4G84    4G85    4PHC    4X5O   
SCOP (Structural Classification of Proteins)1X59    2LW7    4G84    4G85    4PHC    4X5O   
CATH (Classification of proteins structures)1X59    2LW7    4G84    4G85    4PHC    4X5O   
SuperfamilyP12081
Human Protein Atlas [tissue]ENSG00000170445-HARS1 [tissue]
Peptide AtlasP12081
HPRD00827
IPIIPI00021808   IPI00909075   IPI00940549   IPI00911023   IPI00965198   IPI00967106   IPI00910697   IPI00908779   IPI00967440   IPI00976939   
Protein Interaction databases
DIP (DOE-UCLA)P12081
IntAct (EBI)P12081
FunCoupENSG00000170445
BioGRIDHARS1
STRING (EMBL)HARS1
ZODIACHARS1
Ontologies - Pathways
QuickGOP12081
Ontology : AmiGOhistidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  ATP binding  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  cytosol  translation  tRNA aminoacylation for protein translation  histidyl-tRNA aminoacylation  mitochondrial translation  identical protein binding  identical protein binding  
Ontology : EGO-EBIhistidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  ATP binding  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  cytosol  translation  tRNA aminoacylation for protein translation  histidyl-tRNA aminoacylation  mitochondrial translation  identical protein binding  identical protein binding  
NDEx NetworkHARS1
Atlas of Cancer Signalling NetworkHARS1
Wikipedia pathwaysHARS1
Orthology - Evolution
OrthoDB3035
GeneTree (enSembl)ENSG00000170445
Phylogenetic Trees/Animal Genes : TreeFamHARS1
HOGENOMP12081
Homologs : HomoloGeneHARS1
Homology/Alignments : Family Browser (UCSC)HARS1
Gene fusions - Rearrangements
Fusion : MitelmanHARS/CLINT1 [5q31.3/5q33.3]  
Fusion : MitelmanHARS/FAM53C [5q31.3/5q31.2]  [t(5;5)(q31;q31)]  
Fusion PortalHARS 5q31.3 CLINT1 5q33.3 BRCA
Fusion PortalHARS 5q31.3 FAM53C 5q31.2 BRCA
Fusion : QuiverHARS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHARS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HARS1
dbVarHARS1
ClinVarHARS1
1000_GenomesHARS1 
Exome Variant ServerHARS1
ExAC (Exome Aggregation Consortium)ENSG00000170445
GNOMAD BrowserENSG00000170445
Varsome BrowserHARS1
Genetic variants : HAPMAP3035
Genomic Variants (DGV)HARS1 [DGVbeta]
DECIPHERHARS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHARS1 
Mutations
ICGC Data PortalHARS1 
TCGA Data PortalHARS1 
Broad Tumor PortalHARS1
OASIS PortalHARS1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDHARS1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch HARS1
DgiDB (Drug Gene Interaction Database)HARS1
DoCM (Curated mutations)HARS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HARS1 (select a term)
intoGenHARS1
Cancer3DHARS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142810    614504    616625   
Orphanet19169   
DisGeNETHARS1
MedgenHARS1
Genetic Testing Registry HARS1
NextProtP12081 [Medical]
TSGene3035
GENETestsHARS1
Target ValidationHARS1
Huge Navigator HARS1 [HugePedia]
snp3D : Map Gene to Disease3035
BioCentury BCIQHARS1
ClinGenHARS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3035
Chemical/Pharm GKB GenePA29191
Clinical trialHARS1
Miscellaneous
canSAR (ICR)HARS1 (select the gene name)
DataMed IndexHARS1
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHARS1
EVEXHARS1
GoPubMedHARS1
iHOPHARS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:46:18 CET 2019

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