CARS1 (cysteinyl-tRNA synthetase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 833
Gene name Cysteinyl-tRNA synthetase 1
Gene symbol CARS1
Synonyms (NCBI Gene)
CARSCYSRSMCDDBHMDBHMGC:11246
Chromosome 11
Chromosome location 11p15.4
Summary This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of se
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IDA 11347887
GO:0000049 Function TRNA binding IMP 17303165
GO:0000049 Function TRNA binding NAS 7987009
GO:0000166 Function Nucleotide binding IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123859 1493 ENSG00000110619
Protein Protein information from UniProt database.
Gene 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.
P49589
Protein name Cysteine--tRNA ligase, cytoplasmic (EC 6.1.1.16) (Cysteinyl-tRNA synthetase) (CysRS)
Protein function Catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01406 tRNA-synt_1e 41 → 454 tRNA synthetases class I (C) catalytic domain Family
Sequence 
MADSSGQQGKGRRVQPQWSPPAGTQPCRLHLYNSLTRNKEVFIPQDGKKVTWYCCGPTVY
DASHMGHARSYISFDILRRVLKDYFKFDVFYCMNITDIDDKIIKRARQNHLFEQYREKRP
EAAQLLEDVQAALKPFSVKLNETTDPDKKQMLERIQHAVQLATEPLEKAVQSRLTGEEVN
SCVEVLLEEAKDLLSDWLDSTLGCDVTDNSIFSKLPKFWEGDFHRDMEALNVLPPDVLTR
VSEYVPEIVNFVQKIVDNGYGYVSNGSVYFDTAKFASSEKHSYGKLVPEAVGDQKALQEG
EGDLSISADRLSEKRSPNDFALWKASKPGEPSWPCPWGKGRPGWHIECSAMAGTLLGASM
DIHGGGFDLRFPHHDNELAQSEAYFENDCWVRYFLHTGHLTIAGCKMSKSLKNFITIKDA
LKKHSARQLRLAFLMHSWKDTLDYSSNTMESALQYEKFLNEFFLNVKDILRAPVDITGQF
EKWGEEEAELNKNFYDKKTAIHKALCDNVDTRTVMEEMRALVSQCNLYMAARKAVRKRPN
QALLENIALYLTHMLKIFGAVEEDSSLGFPVGGPGTSLSLEATVMPYLQVLSEFREGVRK
IAREQKVPEILQLSDALRDNILPELGVRFEDHEGLPTVVKLVDRNTLLKEREEKRRVEEE
KRKKKEEAARRKQEQEAAKLAKMKIPPSEMFLSETDKYSKFDENGLPTHDMEGKELSKGQ
AKKLKKLFEAQEKLYKEYLQMAQNGSFQ
Sequence length 748
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene 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.
20
Gene 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
Microcephaly, developmental delay, and brittle hair syndrome Likely pathogenic; Pathogenic rs200923551, rs2494629397, rs753057519, rs777861752, rs757978333, rs1851281486, rs764965330 RCV002262184
RCV003388559
RCV001102527
RCV001102528
RCV001102529
RCV001102530
RCV001102531
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CARS1-related disorder Likely benign; Uncertain significance rs545693297, rs752811700, rs149387799, rs114985608 RCV003901591
RCV003912288
RCV003916809
RCV003971952
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 35569444
Burkitt Lymphoma Inhibit 32013131
Carcinoma Renal Cell Associate 32688345, 33461173
Dendritic Cell Sarcoma Follicular Associate 37994105
Developmental Disabilities Associate 30824121
Diabetic Nephropathies Associate 19252134, 20460425
Genetic Diseases Inborn Associate 30824121
Glioblastoma Associate 22952576
HIV Infections Associate 28143740
Infections Associate 32285133