• Gene id: 7247

Gene Summary

• Gene Symbol: TSN   Gene   UCSC   Ensembl
• Aliases: BCLF-1, C3PO, RCHF1, REHF-1, TBRBP, TRSLN
• Gene name: translin
• Alternate names: translin, component 3 of promoter of RISC, recombination hotspot associated factor, recombination hotspot-binding protein, testis brain-RNA binding protein,
• Gene location: 2q14.3 (121755544: 121767852)     Exons: 6     NC_000002.12
• Gene summary(Entrez): This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity.
• OMIM: 600575

Protein Summary

• Protein general information: Q15631  
  • Name: Translin (EC 3.1. . ) (Component 3 of promoter of RISC) (C3PO)
  • Length: 228  
  • Mass: 26183
• Sequence:

  MSVSEIFVELQGFLAAEQDIREEIRKVVQSLEQTAREILTLLQGVHQGAGFQDIPKRCLKAREHFGTVKTHLTSL
  KTKFPAEQYYRFHEHWRFVLQRLVFLAAFVVYLETETLVTREAVTEILGIEPDREKGFHLDVEDYLSGVLILASE
  LSRLSVNSVTAGDYSRPLHISTFINELDSGFRLLNLKNDSLRKRYDGLKYDVKKVEEVVYDLSIRGFNKETAAAC
  VEK

• Structural information:
  • Interpro: IPR033956  IPR016069  IPR002848  IPR016068  IPR036081  
  • CDD: cd14819
  • PDB: 1J1J 3PJA 3QB5 4WYV
  • PDBsum: 1J1J 3PJA 3QB5 4WYV
  • DIP: 42216
  • STRING: ENSP00000374332
• Other Databases: GeneCards:  TSN  Malacards:  TSN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0004521	endoribonuclease activity	IBA	molecular function
GO:0016070	RNA metabolic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006310	DNA recombination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0030422	production of siRNA involved in RNA interference	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

Diseases

Associated diseases	References
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881