HARS1 (histidyl-tRNA synthetase 1)

2007-12-01  

Identity

HGNC
HARS1
LOCATION
5q31.3
LOCUSID
3035
ALIAS
CMT2W,HARS,HRS,USH3B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3035
MIM: 142810
HGNC: 4816
Ensembl: ENSG00000170445

Variants:

dbSNP: 3035
ClinVar: 3035
TCGA: ENSG00000170445
COSMIC: HARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170445ENST00000307633P12081
ENSG00000170445ENST00000415192B4DDD8
ENSG00000170445ENST00000431330B4E1C5
ENSG00000170445ENST00000438307P12081
ENSG00000170445ENST00000457527P12081
ENSG00000170445ENST00000504156P12081
ENSG00000170445ENST00000504366B3KWE1
ENSG00000170445ENST00000507746E7ETE2
ENSG00000170445ENST00000512396D6RF05
ENSG00000170445ENST00000643686A0A2R8YCI2
ENSG00000170445ENST00000645491A0A2R8YCI2
ENSG00000170445ENST00000646229A0A2R8YFR1

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716

References

Pubmed IDYearTitleCitations
128020202003TSG101 interaction with HRS mediates endosomal trafficking and receptor down-regulation.102
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.97
229305932013A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.49
234220762014Patients with non-Jo-1 anti-tRNA-synthetase autoantibodies have worse survival than Jo-1 positive patients.37
223266852012Comparison of long-term outcome between anti-Jo1- and anti-PL7/PL12 positive patients with antisynthetase syndrome.27
260725162015Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.25
176654592007Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis.24
229586432012Internally deleted human tRNA synthetase suggests evolutionary pressure for repurposing.13
292351982018Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.9
242862682013Functional outcome and prognostic factors in anti-Jo1 patients with antisynthetase syndrome.7

Citation

Dessen P

HARS1 (histidyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49937/hars1