Human Gene HARS1 (ENST00000438307.6) from GENCODE V44
Description: Homo sapiens histidyl-tRNA synthetase 1 (HARS1), transcript variant 2, mRNA. (from RefSeq NM_001258040) RefSeq Summary (NM_001258040): 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]. Gencode Transcript: ENST00000438307.6 Gencode Gene: ENSG00000170445.16 Transcript (Including UTRs) Position: hg38 chr5:140,673,915-140,691,341 Size: 17,427 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr5:140,674,257-140,691,304 Size: 17,048 Coding Exon Count: 12
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.
US Server
