• Gene id: 54517

Gene Summary

• Gene Symbol: PUS7   Gene   UCSC   Ensembl
• Aliases: IDDABS
• Gene name: pseudouridine synthase 7
• Alternate names: pseudouridylate synthase 7 homolog, pseudouridylate synthase 7 (putative),
• Gene location: 7q22.3 (105522270: 105456500)     Exons: 17     NC_000007.14
• OMIM: 610055

Protein Summary

• Protein general information: Q96PZ0  
  • Name: Pseudouridylate synthase 7 homolog (EC 5.4.99. )
  • Length: 661  
  • Mass: 75035
• Sequence:

  MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPRPPDTVSTGKGGKNSE
  AQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEADVGITKFVSSHQGFSGILKERYSDFVVHEIGKDGRISH
  LNDLSIPVDEEDPSEDIFTVLTAEEKQRLEELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGLETKTEDR
  EGKKYIVAYHAAGKKALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITV
  QEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQQAMNSLKEIGFINYY
  GMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSGAEKGYLVKCREEWAKTKDPTAALRKLPVKRCVEGQLLR
  GLSKYGMKNIVSAFGIIPRNNRLMYIHSYQSYVWNNMVSKRIEDYGLKPVPGDLVLKGATATYIEEDDVNNYSIH
  DVVMPLPGFDVIYPKHKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFN
  TDVDNLEGKTPPVFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWLR

• Structural information:
  • Protein Domains: (370..58-)
    (/note="TRUD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00342"-)
  • Interpro: IPR020103  IPR001656  IPR020119  IPR011760  IPR042214  
  • Prosite: PS50984 PS01268
  • PDB: 5KKP
  • PDBsum: 5KKP
  • STRING: ENSP00000348722
• Other Databases: GeneCards:  PUS7  Malacards:  PUS7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	HDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0009451	RNA modification	IEA	biological process
GO:0009982	pseudouridine synthase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:0001522	pseudouridine synthesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0008033	tRNA processing	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0017148	negative regulation of translation	IDA	biological process
GO:0031119	tRNA pseudouridine synthesis	IDA	biological process
GO:0009982	pseudouridine synthase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:2000380	regulation of mesoderm development	IMP	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	IMP	biological process
GO:0009982	pseudouridine synthase activity	IMP	molecular function
GO:1990481	mRNA pseudouridine synthesis	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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