HARS1 (histidyl-tRNA synthetase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3035
Gene name Histidyl-tRNA synthetase 1
Gene symbol HARS1
Synonyms (NCBI Gene)
CMT2WHARSHRSUSH3B
Chromosome 5
Chromosome location 5q31.3
Summary 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.
9
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142810 4816 ENSG00000170445
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
544
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant Charcot-Marie-Tooth disease type 2W Likely pathogenic; Pathogenic rs2149845009, rs771201777, rs143473232, rs863225122, rs863225123, rs863225124, rs1554107200 RCV002244106
RCV002284018
RCV000201522
RCV000201516
RCV000201520
RCV000201523
RCV000660862
Spastic ataxia Pathogenic rs1581504953, rs1131040, rs1581505917 RCV001644877
RCV001644875
RCV001644876
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Uncertain significance rs73273304, rs191391414 RCV005924565
RCV005888880
Charcot-Marie-Tooth disease Uncertain significance rs766493535 RCV003994207
Gastric cancer Likely benign rs112113896 RCV005916093
HARS1-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance rs2481231209, rs147372931, rs774632798, rs142994969, rs148516171, rs1319398620, rs754094386, rs754304255, rs748062451 RCV003896301
RCV003915604
RCV003409814
RCV003935656
RCV003953173
RCV004756011
RCV003933113
RCV003973002
RCV003945927
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease 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