• Gene id: 83480

Gene Summary

• Gene Symbol: PUS3   Gene   UCSC   Ensembl
• Aliases: 2610020J05Rik, FKSG32, MRT55
• Gene name: pseudouridine synthase 3
• Alternate names: tRNA pseudouridine(38/39) synthase, pseudouridylate synthase 3, tRNA pseudouridine synthase 3, tRNA pseudouridylate synthase 3, tRNA-uridine isomerase 3,
• Gene location: 11q24.2 (125903220: 125893484)     Exons: 4     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided b
• OMIM: 616283

Protein Summary

• Protein general information: Q9BZE2  
  • Name: tRNA pseudouridine(38/39) synthase (EC 5.4.99.45) (tRNA pseudouridine synthase 3) (tRNA pseudouridylate synthase 3) (tRNA uridine isomerase 3)
  • Length: 481  
  • Mass: 55647
• Sequence:

  MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWG
  YQGFASQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEE
  ANAAAEEIRYTHILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNL
  CKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIID
  ELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVP
  CGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAK
  RDCNDTLEEENTNLETPTKRVCVDTEIKSII

• Structural information:
  • Interpro: IPR020103  IPR001406  IPR020097  IPR020095  IPR041707  
  • CDD: cd02569
  • STRING: ENSP00000227474
• Other Databases: GeneCards:  PUS3  Malacards:  PUS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:1990481	mRNA pseudouridine synthesis	IBA	biological process
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:0031119	tRNA pseudouridine synthesis	IBA	biological process
GO:0009982	pseudouridine synthase activity	IMP	molecular function
GO:0031119	tRNA pseudouridine synthesis	IMP	biological process
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:0008033	tRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0106029	tRNA pseudouridine synthase activity	IEA	molecular function
GO:0009982	pseudouridine synthase activity	EXP	molecular function
GO:0006400	tRNA modification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0031119	tRNA pseudouridine synthesis	IEA	biological process
GO:0009982	pseudouridine synthase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
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