Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HARS1 (histidyl-tRNA synthetase 1)

Identity

Alias (NCBI)CMT2W
HARS
HRS
USH3B
HGNC (Hugo) HARS1
HGNC Alias symbHisRS
HGNC Alias namehistidine tRNA ligase 1, cytoplasmic
 Jo‐1 antigen
HGNC Previous nameUSH3B
 HARS
HGNC Previous nameUsher syndrome 3B
 histidyl-tRNA synthetase
LocusID (NCBI) 3035
Atlas_Id 49937
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 140673905 and ends at 140691370 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



External links

 

Nomenclature
HGNC (Hugo)HARS1   4816
LRG (Locus Reference Genomic)LRG_1374
Cards
Entrez_Gene (NCBI)HARS1    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]  chr5:140673905-140691370 [Contig_View]  HARS1 [Vega]
ICGC DataPortalENSG00000170445
TCGA cBioPortalHARS1
AceView (NCBI)HARS1
Genatlas (Paris)HARS1
SOURCE (Princeton)HARS1
Genetics Home Reference (NIH)HARS1
Genomic and cartography
GoldenPath hg38 (UCSC)HARS1  -     chr5:140673905-140691370 -  5q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HARS1  -     5q31.3   [Description]    (hg19-Feb_2009)
GoldenPathHARS1 - 5q31.3 [CytoView hg19]  HARS1 - 5q31.3 [CytoView hg38]
ImmunoBaseENSG00000170445
Genome Data Viewer NCBIHARS1 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)HARS1
Gene ExpressionHARS1 [ NCBI-GEO ]   HARS1 [ EBI - ARRAY_EXPRESS ]   HARS1 [ SEEK ]   HARS1 [ MEM ]
Gene Expression Viewer (FireBrowse)HARS1 [ Firebrowse - Broad ]
GenevisibleExpression of HARS1 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
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-like_core    HisRS/HisZ    HisRS_anticodon    S15_NS1_RNA-bd    WHEP-TRS_dom   
Domain families : Pfam (Sanger)HGTP_anticodon (PF03129)    tRNA-synt_His (PF13393)    WHEP-TRS (PF00458)   
Domain families : Pfam (NCBI)pfam03129    pfam13393    pfam00458   
Domain families : Smart (EMBL)WHEP-TRS (SM00991)  
Conserved Domain (NCBI)HARS1
PDB (RSDB)1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
PDB Europe1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
PDB (PDBSum)1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
PDB (IMB)1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
Structural Biology KnowledgeBase1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
SCOP (Structural Classification of Proteins)1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
CATH (Classification of proteins structures)1X59    2LW7    4G84    4G85    4PHC    4X5O    5W6M    6O76   
SuperfamilyP12081
AlphaFold pdb e-kbP12081   
Human Protein Atlas [tissue]ENSG00000170445-HARS1 [tissue]
HPRD00827
Protein Interaction databases
DIP (DOE-UCLA)P12081
IntAct (EBI)P12081
BioGRIDHARS1
STRING (EMBL)HARS1
ZODIACHARS1
Ontologies - Pathways
QuickGOP12081
Ontology : AmiGOhistidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  ATP binding  cytoplasm  mitochondrion  cytosol  cytosol  cytosol  translation  tRNA aminoacylation for protein translation  histidyl-tRNA aminoacylation  histidyl-tRNA aminoacylation  mitochondrial translation  identical protein binding  identical protein binding  protein homodimerization activity  
Ontology : EGO-EBIhistidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  histidine-tRNA ligase activity  ATP binding  cytoplasm  mitochondrion  cytosol  cytosol  cytosol  translation  tRNA aminoacylation for protein translation  histidyl-tRNA aminoacylation  histidyl-tRNA aminoacylation  mitochondrial translation  identical protein binding  identical protein binding  protein homodimerization activity  
Pathways : KEGGKEGG_AMINOACYL_TRNA_BIOSYNTHESIS   
NDEx NetworkHARS1
Atlas of Cancer Signalling NetworkHARS1
Wikipedia pathwaysHARS1
Orthology - Evolution
OrthoDB3035
GeneTree (enSembl)ENSG00000170445
Phylogenetic Trees/Animal Genes : TreeFamHARS1
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]  
Fusion : QuiverHARS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHARS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HARS1
dbVarHARS1
ClinVarHARS1
MonarchHARS1
1000_GenomesHARS1 
Exome Variant ServerHARS1
GNOMAD BrowserENSG00000170445
Varsome BrowserHARS1
ACMGHARS1 variants
VarityP12081
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)[gene] [transcripts] [variants]
BioMutaHARS1
DgiDB (Drug Gene Interaction Database)HARS1
DoCM (Curated mutations)HARS1
CIViC (Clinical Interpretations of Variants in Cancer)HARS1
Cancer3DHARS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142810    614504    616625   
Orphanet19169    25399   
DisGeNETHARS1
MedgenHARS1
Genetic Testing Registry HARS1
NextProtP12081 [Medical]
GENETestsHARS1
Target ValidationHARS1
Huge Navigator HARS1 [HugePedia]
ClinGenHARS1
Clinical trials, drugs, therapy
MyCancerGenomeHARS1
Protein Interactions : CTDHARS1
PharosP12081
Clinical trialHARS1
Miscellaneous
canSAR (ICR)HARS1
HarmonizomeHARS1
ARCHS4HARS1
DataMed IndexHARS1
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHARS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:36:31 CET 2022

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