• Gene id: 833

Gene Summary

• Gene Symbol: CARS1   Gene   UCSC   Ensembl
• Aliases: CARS, CYSRS, MGC:11246
• Gene name: cysteinyl-tRNA synthetase 1
• Alternate names: cysteine--tRNA ligase, cytoplasmic, cysteine tRNA ligase 1, cytoplasmic, cysteine translase,
• Gene location: 11p15.4 (47214941: 47239217)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 123859

SNPs

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: P49589  
  • Name: Cysteine tRNA ligase, cytoplasmic (EC 6.1.1.16) (Cysteinyl tRNA synthetase) (CysRS)
  • Length: 748  
  • Mass: 85473
• Sequence:

  MADSSGQQGKGRRVQPQWSPPAGTQPCRLHLYNSLTRNKEVFIPQDGKKVTWYCCGPTVYDASHMGHARSYISFD
  ILRRVLKDYFKFDVFYCMNITDIDDKIIKRARQNHLFEQYREKRPEAAQLLEDVQAALKPFSVKLNETTDPDKKQ
  MLERIQHAVQLATEPLEKAVQSRLTGEEVNSCVEVLLEEAKDLLSDWLDSTLGCDVTDNSIFSKLPKFWEGDFHR
  DMEALNVLPPDVLTRVSEYVPEIVNFVQKIVDNGYGYVSNGSVYFDTAKFASSEKHSYGKLVPEAVGDQKALQEG
  EGDLSISADRLSEKRSPNDFALWKASKPGEPSWPCPWGKGRPGWHIECSAMAGTLLGASMDIHGGGFDLRFPHHD
  NELAQSEAYFENDCWVRYFLHTGHLTIAGCKMSKSLKNFITIKDALKKHSARQLRLAFLMHSWKDTLDYSSNTME
  SALQYEKFLNEFFLNVKDILRAPVDITGQFEKWGEEEAELNKNFYDKKTAIHKALCDNVDTRTVMEEMRALVSQC
  NLYMAARKAVRKRPNQALLENIALYLTHMLKIFGAVEEDSSLGFPVGGPGTSLSLEATVMPYLQVLSEFREGVRK
  IAREQKVPEILQLSDALRDNILPELGVRFEDHEGLPTVVKLVDRNTLLKEREEKRRVEEEKRKKKEEAARRKQEQ
  EAAKLAKMKIPPSEMFLSETDKYSKFDENGLPTHDMEGKELSKGQAKKLKKLFEAQEKLYKEYLQMAQNGSFQ

• Structural information:
  • Interpro: IPR015803  IPR024909  IPR014729  IPR032678  IPR009080  
  • CDD: cd00672
  • STRING: ENSP00000369897
• Other Databases: GeneCards:  CARS1  Malacards:  CARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004817	cysteine-tRNA ligase activity	IBA	molecular function
GO:0006423	cysteinyl-tRNA aminoacylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005524	ATP binding	IBA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004817	cysteine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006423	cysteinyl-tRNA aminoacylation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0004817	cysteine-tRNA ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0004817	cysteine-tRNA ligase activity	IDA	molecular function
GO:0006423	cysteinyl-tRNA aminoacylation	IDA	biological process
GO:0006423	cysteinyl-tRNA aminoacylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0004817	cysteine-tRNA ligase activity	IDA	molecular function
GO:0000049	tRNA binding	IMP	molecular function
GO:0000049	tRNA binding	NAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq