HARS1 Chromosome 5
Histidyl-tRNA synthetase 1
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What This Gene Does
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000170445
Associated Conditions (11)
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Usher syndrome type 3B
HARS1-related multi-system ataxia syndrome
Retinal dystrophy
HARS1-related disorder
Hepatocellular carcinoma
Inborn genetic diseases
11 conditions
Peripheral neuropathy
Spastic ataxia
10 conditions
Key Variants
RS1239341211
Conflicting classifications of pathogenicity
Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B, Autosomal dominant Charcot-Marie-Tooth disease type 2W
Health Risk
RS138377835
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS138582560
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS144588417
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS147185134
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS1473283139
Conflicting classifications of pathogenicity
Usher syndrome type 3B, HARS1-related multi-system ataxia syndrome, Usher syndrome type 3B
Health Risk
RS147372931
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Retinal dystrophy, HARS1-related disorder
Health Risk
RS151258227
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS1554109203
Conflicting classifications of pathogenicity
Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B, Autosomal dominant Charcot-Marie-Tooth disease type 2W
Health Risk
RS186526524
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS192923161
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
RS199615869
Conflicting classifications of pathogenicity
Usher syndrome type 3B, Usher syndrome type 3B
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1239341211 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS138377835 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS138582560 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS144588417 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS147185134 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS1473283139 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, HARS1-related multi-system ataxia syndrome, Usher syndrome type 3B |
| RS147372931 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Retinal dystrophy, HARS1-related disorder |
| RS151258227 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS1554109203 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS186526524 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS192923161 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS199615869 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS201398055 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS2481291540 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS371470801 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Hepatocellular carcinoma, Usher syndrome type 3B |
| RS374172904 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS387906639 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Inborn genetic diseases, Usher syndrome type 3B |
| RS550778711 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS552434037 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS749991162 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS753788498 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS754304255 | Health Risk | Conflicting classifications of pathogenicity | 11 conditions, Usher syndrome type 3B, Peripheral neuropathy |
| RS755088410 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS756193571 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS758173527 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS763198737 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS763952844 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS766547643 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS768076848 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS771201777 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS771603866 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS774632798 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, HARS1-related disorder, Usher syndrome type 3B |
| RS78741041 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS891844407 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome type 3B, Usher syndrome type 3B |
| RS1554107200 | Health Risk | Likely pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS2149845009 | Health Risk | Likely pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS1131040 | Health Risk | Pathogenic | 10 conditions, Spastic ataxia, 10 conditions |
| RS1581504953 | Health Risk | Pathogenic | 11 conditions, Spastic ataxia, 11 conditions |
| RS1581505917 | Health Risk | Pathogenic | 10 conditions, Spastic ataxia, 10 conditions |
| RS863225122 | Health Risk | Pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS863225123 | Health Risk | Pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS863225124 | Health Risk | Pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| RS143473232 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W |