• Gene id: 115939

Gene Summary

• Gene Symbol: TSR3   Gene   UCSC   Ensembl
• Aliases: C16orf42
• Gene name: TSR3 ribosome maturation factor
• Alternate names: ribosome biogenesis protein TSR3 homolog, TSR3, 20S rRNA accumulation, homolog, TSR3, acp transferase ribosome maturation factor, probable ribosome biogenesis protein C16orf42,
• Gene location: 16p13.3 (1351877: 1349239)     Exons: 6     NC_000016.10
• OMIM: 617058

Protein Summary

• Protein general information: Q9UJK0  
  • Name: Ribosome biogenesis protein TSR3 homolog
  • Length: 312  
  • Mass: 33596
• Sequence:

  MGRRRAARGPGAEGGRPRHLPTRSLEAFAEEVGAALQASVEPGAADGEGGPGPAALPCTLAMWELGHCDPRRCTG
  RKLARLGLVRCLRLGHRFGGLVLSPVGKQYASPADRQLVAQSGVAVIDCSWARLDETPFGKMRGSHLRLLPYLVA
  ANPVNYGRPYRLSCVEAFAATFCIVGFPDLAVILLRKFKWGKGFLDLNRQLLDKYAACGSPEEVLQAEQEFLANA
  KESPQEEEIDPFDVDSGREFGNPNRPVASTRLPSDTDDSDASEDPGPGAERGGASSSCCEEEQTQGRGAEARAPA
  EVWKGIKKRQRD

• Structural information:
  • Interpro: IPR022968  IPR007209  IPR007177  
  • STRING: ENSP00000007390
• Other Databases: GeneCards:  TSR3  Malacards:  TSR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030490	maturation of SSU-rRNA	IBA	biological process
GO:0016740	transferase activity	IMP	molecular function
GO:0000455	enzyme-directed rRNA pseudouridine synthesis	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016740	transferase activity	EXP	molecular function
GO:0000154	rRNA modification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904047	S-adenosyl-L-methionine binding	IEA	molecular function
GO:0000455	enzyme-directed rRNA pseudouridine synthesis	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
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
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq