WARS1 (tryptophanyl-tRNA synthetase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7453
Gene name Tryptophanyl-tRNA synthetase 1
Gene symbol WARS1
Synonyms (NCBI Gene)
GAMMA-2HMN9HMND9IFI53IFP53NEDMSBAWARS
Chromosome 14
Chromosome location 14q32.2
Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first prot
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs770003315 T>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.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004830 Function Tryptophan-tRNA ligase activity IBA
GO:0004830 Function Tryptophan-tRNA ligase activity IEA
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
191050 12729 ENSG00000140105
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.
P23381
Protein name Tryptophan--tRNA ligase, cytoplasmic (EC 6.1.1.2) (Interferon-induced protein 53) (IFP53) (Tryptophanyl-tRNA synthetase) (TrpRS) (hWRS) [Cleaved into: T1-TrpRS; T2-TrpRS]
Protein function Catalyzes the attachment of tryptophan to tRNA(Trp) in a two-step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of the tRNA(Trp). {ECO:0000269|PubMed:1373391, ECO:0000269|PubMed:1761529,
PDB 1O5T , 1R6T , 1R6U , 1ULH , 2AKE , 2AZX , 2DR2 , 2QUH , 2QUI , 2QUJ , 2QUK , 5UJI , 5UJJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00458 WHEP-TRS 12 → 64 WHEP-TRS domain Domain
PF00579 tRNA-synt_1b 151 → 443 tRNA synthetases class I (W and Y) Family
Sequence
Sequence length 471
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.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities Pathogenic; Likely pathogenic rs2549306131, rs550196955, rs2139927654 RCV003223372
RCV003223373
RCV003990819
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental delay Uncertain significance rs1484613779 RCV003154295
Familial cancer of breast Benign rs2234528 RCV005923195
Malignant lymphoma, large B-cell, diffuse Benign rs2234528 RCV005923197
Neuronopathy, distal hereditary motor, type 9 Benign; Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records rs941923, rs2139921550, rs2234530, rs9453, rs2549242563, rs138324067, rs773636381, rs770003315, rs1895599490, rs1894240526 RCV002243294
RCV001537882
RCV002243376
RCV002243391
RCV002290098
RCV004596580
RCV004547392
RCV000509593
RCV001200896
RCV001251628
Show/Hide Text Mining Associations (49)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 37794510
Alzheimer Disease Associate 29485232
Arrhythmias Cardiac Associate 12747836
Atrial Fibrillation Associate 37967346
Breast Neoplasms Associate 9848077
Carcinoma Pancreatic Ductal Stimulate 33179081
Carcinoma Squamous Cell Associate 22546478
Cardiomyopathy Hypertrophic Associate 23741347
Cerebral Infarction Associate 39542148
Colorectal Neoplasms Associate 19383890, 25206290, 37794510