• Gene id: 391356

Gene Summary

• Gene Symbol: PTRHD1   Gene   UCSC   Ensembl
• Aliases: C2orf79
• Gene name: peptidyl-tRNA hydrolase domain containing 1
• Alternate names: putative peptidyl-tRNA hydrolase PTRHD1, peptidyl-tRNA hydrolase domain-containing protein 1,
• Gene location: 2p23.3 (24793381: 24790266)     Exons: 2     NC_000002.12
• Gene summary(Entrez): This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided b
• OMIM: 617342

Protein Summary

• Protein general information: Q6GMV3  
  • Name: Putative peptidyl tRNA hydrolase PTRHD1 (EC 3.1.1.29) (Peptidyl tRNA hydrolase domain containing protein 1)
  • Length: 140  
  • Mass: 15805
• Sequence:

  MHRGVGPAFRVVRKMAASGAEPQVLVQYLVLRKDLSQAPFSWPAGALVAQACHAATAALHTHRDHPHTAAYLQEL
  GRMRKVVLEAPDETTLKELAETLQQKNIDHMLWLEQPENIATCIALRPYPKEEVGQYLKKFRLFK

• Structural information:
  • Interpro: IPR023476  IPR002833  IPR042237  
  • STRING: ENSP00000330389
• Other Databases: GeneCards:  PTRHD1  Malacards:  PTRHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004045	aminoacyl-tRNA hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004045	aminoacyl-tRNA hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)