• Gene id: 285367

Gene Summary

• Gene Symbol: RPUSD3   Gene   UCSC   Ensembl
• Gene name: RNA pseudouridine synthase D3
• Alternate names: mitochondrial mRNA pseudouridine synthase RPUSD3, RNA pseudouridylate synthase domain containing 3, RNA pseudouridylate synthase domain-containing protein 3,
• Gene location: 3p25.3 (50508215: 50524779)     Exons: 21     NC_000022.11
• Gene summary(Entrez): This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple
• OMIM: 617759

Protein Summary

• Protein general information: Q6P087  
  • Name: Mitochondrial mRNA pseudouridine synthase RPUSD3 (EC 5.4.99. ) (RNA pseudouridylate synthase domain containing protein 3)
  • Length: 351  
  • Mass: 38461
• Sequence:

  MRAVLAREMDGRRVLGRFWSGWRRGLGVRPVPEDAGFGTEARHQRQPRGSCQRSGPLGDQPFAGLLPKNLSREEL
  VDALRAAVVDRKGPLVTLNKPQGLPVTGKPGELTLFSVLPELSQSLGLREQELQVVRASGKESSGLVLLSSCPQT
  ASRLQKYFTHARRAQRPTATYCAVTDGIPAASEGKIQAALKLEHIDGVNLTVPVKAPSRKDILEGVKKTLSHFRV
  VATGSGCALVQLQPLTVFSSQLQVHMVLQLCPVLGDHMYSARVGTVLGQRFLLPAENNKPQRQVLDEALLRRLHL
  TPSQAAQLPLHLHLHRLLLPGTRARDTPVELLAPLPPYFSRTLQCLGLRLQ

• Structural information:
  • Interpro: IPR020103  IPR006145  
  • CDD: cd02869
  • STRING: ENSP00000373331
• Other Databases: GeneCards:  RPUSD3  Malacards:  RPUSD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070131	positive regulation of mitochondrial translation	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:0006397	mRNA processing	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
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)