• Gene id: 3035

Gene Summary

• Gene Symbol: HARS1   Gene   UCSC   Ensembl
• Aliases: CMT2W, HARS, HRS, USH3B
• Gene name: histidyl-tRNA synthetase 1
• Alternate names: histidine--tRNA ligase, cytoplasmic, HisRS, Jo-1 antigen, histidine translase,
• Gene location: 5q31.3 (229922502: 230013912)     Exons: 5     NC_000002.12
• Gene summary(Entrez): Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for
• OMIM: 142810

Protein Summary

• Protein general information: P12081  
  • Name: Histidine tRNA ligase, cytoplasmic (EC 6.1.1.21) (Histidyl tRNA synthetase) (HisRS)
  • Length: 509  
  • Mass: 57411
  • Tissue specificity: Brain, heart, liver and kidney.
• Sequence:

  MAERAALEELVKLQGERVRGLKQQKASAELIEEEVAKLLKLKAQLGPDESKQKFVLKTPKGTRDYSPRQMAVREK
  VFDVIIRCFKRHGAEVIDTPVFELKETLMGKYGEDSKLIYDLKDQGGELLSLRYDLTVPFARYLAMNKLTNIKRY
  HIAKVYRRDNPAMTRGRYREFYQCDFDIAGNFDPMIPDAECLKIMCEILSSLQIGDFLVKVNDRRILDGMFAICG
  VSDSKFRTICSSVDKLDKVSWEEVKNEMVGEKGLAPEVADRIGDYVQQHGGVSLVEQLLQDPKLSQNKQALEGLG
  DLKLLFEYLTLFGIDDKISFDLSLARGLDYYTGVIYEAVLLQTPAQAGEEPLGVGSVAAGGRYDGLVGMFDPKGR
  KVPCVGLSIGVERIFSIVEQRLEALEEKIRTTETQVLVASAQKKLLEERLKLVSELWDAGIKAELLYKKNPKLLN
  QLQYCEEAGIPLVAIIGEQELKDGVIKLRSVTSREEVDVRREDLVEEIKRRTGQPLCIC

• Structural information:
  • Protein Domains: (3..5-)
    (/note="WHEP-TRS"-)
  • Interpro: IPR006195  IPR004154  IPR036621  IPR015807  IPR041715   IPR004516  IPR033656  IPR009068  IPR000738  
  • Prosite: PS50862 PS00762 PS51185
  • CDD: cd00773 cd00859
  • PDB: 1X59 2LW7 4G84 4G85 4PHC 4X5O 5W6M 6O76
  • PDBsum: 1X59 2LW7 4G84 4G85 4PHC 4X5O 5W6M 6O76
  • DIP: 37596
  • STRING: ENSP00000425634
• Other Databases: GeneCards:  HARS1  Malacards:  HARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004821	histidine-tRNA ligase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006427	histidyl-tRNA aminoacylation	IBA	biological process
GO:0032543	mitochondrial translation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0042802	identical protein binding	IBA	molecular function
GO:0006427	histidyl-tRNA aminoacylation	IDA	biological process
GO:0004821	histidine-tRNA ligase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004821	histidine-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0006427	histidyl-tRNA aminoacylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004821	histidine-tRNA ligase activity	IEA	molecular function
GO:0004821	histidine-tRNA ligase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006412	translation	NAS	biological process
GO:0004821	histidine-tRNA ligase activity	NAS	molecular function
GO:0004821	histidine-tRNA ligase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Usher syndrome	KEGG:H00779
Charcot-Marie-Tooth disease	KEGG:H00264
Usher syndrome	KEGG:H00779
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