CARS1 (cysteinyl-tRNA synthetase 1)

Gene

• Entrez ID: 833
• Gene name: Cysteinyl-tRNA synthetase 1
• Gene symbol: CARS1
• Synonyms (NCBI Gene): CARS, CYSRS, MCDDBH, MDBH, MGC: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)

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
GO:0004817	Function	Cysteine-tRNA ligase activity	IBA
GO:0004817	Function	Cysteine-tRNA ligase activity	IDA	10908348, 11347887, 17303165
GO:0004817	Function	Cysteine-tRNA ligase activity	IEA
GO:0004817	Function	Cysteine-tRNA ligase activity	IMP	30824121
GO:0005515	Function	Protein binding	IPI	10908348
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IDA	17303165
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11347887, 30824121
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	11347887
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006423	Process	Cysteinyl-tRNA aminoacylation	IBA
GO:0006423	Process	Cysteinyl-tRNA aminoacylation	IDA	10908348, 11347887, 17303165
GO:0006423	Process	Cysteinyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	17303165
GO:0042803	Function	Protein homodimerization activity	IDA	11347887
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 123859
• HGNC: 1493
• e!Ensembl: ENSG00000110619

Protein

• UniProt ID: 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

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Microcephaly, developmental delay, and brittle hair syndrome	Likely pathogenic; Pathogenic	rs200923551, rs2494629397, rs753057519, rs777861752, rs757978333, rs1851281486, rs764965330	RCV002262184 RCV003388559 RCV001102527 RCV001102528 RCV001102529 RCV001102530 RCV001102531	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARS1-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	30139652		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25261775, 29216607, 30031872, 30640053, 31562903		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	30074416		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	10766977, 18597938, 22562829, 24718998		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	32013131	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32688345, 33461173	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28707130		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	24718998		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30824121	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21412220		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21412220		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19252134, 20460425	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19252134, 26909942		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22952576	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	ORPHANET_DG	12112524, 13679433		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	13679433		★☆☆☆☆ Found in Text Mining only
Inflammatory myofibroblastic tumor	Inflammatory Myofibroblastic Tumor	Orphanet			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	12112524		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	12112524		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21412220		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	30824121		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30824121	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32013131	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35852863	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	32997436	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16437719, 20431282, 28410332		★☆☆☆☆ Found in Text Mining only