ID:SYHC_HUMAN DESCRIPTION: RecName: Full=Histidine--tRNA ligase, cytoplasmic; EC=6.1.1.21; AltName: Full=Histidyl-tRNA synthetase; Short=HisRS; CATALYTIC ACTIVITY: ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His). SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Brain, heart, liver and kidney. DISEASE: Defects in HARS are a cause of Usher syndrome type 3B (USH3B) [MIM:614504]. USH3B is 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. SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family. SIMILARITY: Contains 1 WHEP-TRS domain. SEQUENCE CAUTION: Sequence=CAA28956.1; Type=Frameshift; Positions=Several;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P12081
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.