• Gene id: 55720

Gene Summary

• Gene Symbol: TSR1   Gene   UCSC   Ensembl
• Gene name: TSR1 ribosome maturation factor
• Alternate names: pre-rRNA-processing protein TSR1 homolog,
• Gene location: 17p13.3 (2336456: 2322395)     Exons: 15     NC_000017.11
• OMIM: 611214

Protein Summary

• Protein general information: Q2NL82  
  • Name: Pre rRNA processing protein TSR1 homolog
  • Length: 804  
  • Mass: 91810
• Sequence:

  MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQLRKQKKEAVLAEKRQL
  GGKDGPPHQVLVVPLHSRISLPEAMQLLQDRDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMA
  KVADTILFLLDPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHDKLLLLDT
  QQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMK
  QIDAPGDPFPLNPRGIKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEE
  LSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYEYDDMEHEDFMEEESQDESSEEEEEYETMTI
  GESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYA
  RIFQFQNFTNTRKSIFKEVEEKEVEGAEVGWYVTLHVSEVPVSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRR
  DPGNTEPVKAKEELIFHCGFRRFRASPLFSQHTAADKHKLQRFLTADMALVATVYAPITFPPASVLLFKQKSNGM
  HSLIATGHLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNREDVLWFKPVELRTKWGRRGHIKEPLGTHGH
  MKCSFDGKLKSQDTVLMNLYKRVFPKWTYDPYVPEPVPWLKSEISSTVPQGGME

• Structural information:
  • Protein Domains: (81..24-)
    (/note="Bms1-type-G")
  • Interpro: IPR012948  IPR039761  IPR007034  IPR030387  
  • Prosite: PS51714
  • PDB: 6G18 6G4S 6G4W 6G51 6G53
  • PDBsum: 6G18 6G4S 6G4W 6G51 6G53
  • STRING: ENSP00000301364
• Other Databases: GeneCards:  TSR1  Malacards:  TSR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	HDA	molecular function
GO:0005730	nucleolus	ISS	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0000479	endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0000462	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0034511	U3 snoRNA binding	IBA	molecular function
GO:0030688	preribosome, small subunit precursor	IBA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component

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