HARS1 (histidyl-tRNA synthetase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3035
Gene name Gene Name - the full gene name approved by the HGNC.
Histidyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HARS1
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2W, HARS, HRS, USH3B
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs1131040 C>A,T Pathogenic Coding sequence variant, missense variant
rs143473232 G>A,C Pathogenic Coding sequence variant, intron variant, missense variant
rs191391414 C>T Pathogenic, uncertain-significance Missense variant, coding sequence variant, intron variant
rs863225122 G>T Pathogenic Coding sequence variant, intron variant, missense variant
rs863225123 A>C Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding IBA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004821 Function Histidine-tRNA ligase activity IBA
GO:0004821 Function Histidine-tRNA ligase activity IDA 29235198
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142810 4816 ENSG00000170445
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P12081
Protein name Histidine--tRNA ligase, cytoplasmic (EC 6.1.1.21) (Histidyl-tRNA synthetase) (HisRS)
Protein function Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516). {ECO:0000269|PubMed:26072
PDB 1X59 , 2LW7 , 4G84 , 4G85 , 4PHC , 4X5O , 5W6M , 6O76 , 8YOR , 8YP1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00458 WHEP-TRS 7 → 53 WHEP-TRS domain Domain
PF13393 tRNA-synt_His 61 → 389 Histidyl-tRNA synthetase Domain
PF03129 HGTP_anticodon 410 → 501 Anticodon binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Brain, heart, liver and kidney.
Sequence
Sequence length 509
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Aminoacyl-tRNA biosynthesis   Cytosolic tRNA aminoacylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease autosomal dominant charcot-marie-tooth disease type 2w rs863225124, rs1554107200, rs143473232, rs863225122, rs863225123 N/A
Spastic Ataxia spastic ataxia rs1581504953, rs1131040, rs1581505917 N/A
Usher Syndrome Usher syndrome type 3B rs756193571 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Peripheral Neuropathy peripheral neuropathy N/A N/A ClinVar
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Retinitis Pigmentosa Retinitis pigmentosa-deafness syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Broca Associate 32333447
Autoimmune Diseases Associate 33131414
Blindness Associate 28632987
Carcinoma Hepatocellular Associate 1549469
Charcot Marie Tooth Disease Associate 28632987, 31501329
Charcot Marie Tooth disease Type 2B Associate 29235198
Citrullinemia Associate 33131414
Deafness Associate 28632987, 29142287
Drug Related Side Effects and Adverse Reactions Associate 36164730
Hallucinations Associate 28632987