• Gene id: 8565

Gene Summary

• Gene Symbol: YARS1   Gene   UCSC   Ensembl
• Aliases: CMTDIC, TYRRS, YARS, YRS, YTS
• Gene name: tyrosyl-tRNA synthetase 1
• Alternate names: tyrosine--tRNA ligase, cytoplasmic, tyrosine tRNA ligase 1, cytoplasmic, tyrosyl--tRNA ligase, tyrosyl-tRNA synthetase, cytoplasmic,
• Gene location: 1p35.1 (7968795: 8089079)     Exons: 8     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 603623

Protein Summary

• Protein general information: P54577  
  • Name: Tyrosine tRNA ligase, cytoplasmic (EC 6.1.1.1) (Tyrosyl tRNA synthetase) (TyrRS) [Cleaved into: Tyrosine tRNA ligase, cytoplasmic, N terminally processed]
  • Length: 528  
  • Mass: 59143
• Sequence:

  MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFAD
  LHAYLDNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGA
  EVVKQVEHPLLSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSS
  SEEESKIDLLDRKEDVKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFA
  AEVVHPGDLKNSVEVALNKLLDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKI
  ITVEKHPDADSLYVEKIDVGEAEPRTVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINR
  QVEPLDPPAGSAPGEHVFVKGYEKGQPDEELKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGG
  NIS

• Structural information:
  • Protein Domains: (364..46-)
    (/note="tRNA-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00209"-)
  • Interpro: IPR002305  IPR012340  IPR014729  IPR002547  IPR002307  
  • Prosite: PS50886
  • CDD: cd00805
  • PDB: 1N3L 1NTG 1Q11 4Q93 4QBT 5THH 5THL
  • PDBsum: 1N3L 1NTG 1Q11 4Q93 4QBT 5THH 5THL
  • DIP: 50415
  • STRING: ENSP00000362576
• Other Databases: GeneCards:  YARS1  Malacards:  YARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004831	tyrosine-tRNA ligase activity	IBA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004831	tyrosine-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:0006437	tyrosyl-tRNA aminoacylation	IEA	biological process
GO:0000049	tRNA binding	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005153	interleukin-8 receptor binding	TAS	molecular function
GO:0004831	tyrosine-tRNA ligase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006437	tyrosyl-tRNA aminoacylation	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0004831	tyrosine-tRNA ligase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881