• Gene id: 142940

Gene Summary

• Gene Symbol: TRUB1   Gene   UCSC   Ensembl
• Aliases: PUS4
• Gene name: TruB pseudouridine synthase family member 1
• Alternate names: probable tRNA pseudouridine synthase 1, TruB pseudouridine (psi) synthase family member 1, TruB pseudouridine (psi) synthase homolog 1,
• Gene location: 10q25.3 (114938194: 114977675)     Exons: 8     NC_000010.11
• Gene summary(Entrez): Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
• OMIM: 610726

Protein Summary

• Protein general information: Q8WWH5  
  • Name: Probable tRNA pseudouridine synthase 1 (EC 5.4.99. )
  • Length: 349  
  • Mass: 37253
  • Tissue specificity: Highly expressed in heart, skeletal muscle and liver. Expressed at lower levels in lung, small intestine, kidney and spleen. {ECO
• Sequence:

  MAASEAAVVSSPSLKTDTSPVLETAGTVAAMAATPSARAAAAVVAAAARTGSEARVSKAALATKLLSLSGVFAVH
  KPKGPTSAELLNRLKEKLLAEAGMPSPEWTKRKKQTLKIGHGGTLDSAARGVLVVGIGSGTKMLTSMLSGSKRYT
  AIGELGKATDTLDSTGRVTEEKPYDKITQEDIEGILQKFTGNIMQVPPLYSALKKDGQRLSTLMKRGEVVEAKPA
  RPVTVYSISLQKFQPPFFTLDVECGGGFYIRSLVSDIGKELSSCANVLELTRTKQGPFTLEEHALPEDKWTIDDI
  AQSLEHCSSLFPAELALKKSKPESNEQVLSCEYITLNEPKREDDVIKTC

• Structural information:
  • Interpro: IPR020103  IPR002501  IPR014780  
  • STRING: ENSP00000298746
• Other Databases: GeneCards:  TRUB1  Malacards:  TRUB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:1990481	mRNA pseudouridine synthesis	IBA	biological process
GO:0006400	tRNA modification	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0009982	pseudouridine synthase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:1990481	mRNA pseudouridine synthesis	IDA	biological process
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0006396	RNA processing	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:0005737	cytoplasm	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray