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MGP001411

UniProt Annotations

Entry Information
Gene Namehistidyl-tRNA synthetase
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P12081-1; Sequence=Displayed; Name=2; IsoId=P12081-2; Sequence=VSP_045118; Name=3; IsoId=P12081-3; Sequence=VSP_045118, VSP_046662; Name=4; IsoId=P12081-4; Sequence=VSP_046662;
Catalytic ActivityATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His).
DiseaseNote=HARS mutations may be involved in peripheral neuropathy, a disease mainly characterized by distal motor and sensory dysfunction. Inherited peripheral neuropathies are clinically and genetically heterogeneous with variable age of onset and reduced penetrance associated with specific loci. HARS mutations may directly predispose patients to peripheral neuropathy or may modify a peripheral neuropathy phenotype by contributing to the genetic and environmental load in a given patient (PubMed:22930593). {ECO:0000269|PubMed:22930593}.
DiseaseUsher syndrome 3B (USH3B) [MIM:614504]: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence CautionSequence=CAA28956.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
SimilarityContains 1 WHEP-TRS domain. {ECO:0000305}.
Subcellular LocationCytoplasm.
Tissue SpecificityBrain, heart, liver and kidney.
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