• Gene id: 84881

Gene Summary

• Gene Symbol: RPUSD4   Gene   UCSC   Ensembl
• Gene name: RNA pseudouridine synthase D4
• Alternate names: mitochondrial RNA pseudouridine synthase RPUSD4, RNA pseudouridylate synthase domain containing 4, RNA pseudouridylate synthase domain-containing protein 4,
• Gene location: 11q24.2 (126211691: 126202093)     Exons: 7     NC_000011.10
• OMIM: 617488

Protein Summary

• Protein general information: Q96CM3  
  • Name: Mitochondrial RNA pseudouridine synthase RPUSD4 (EC 5.4.99. ) (RNA pseudouridylate synthase domain containing protein 4)
  • Length: 377  
  • Mass: 42205
• Sequence:

  MAAPRWSASGPWIRGNGQGCGSLFTLVSKPFCAAAAASTAINAQRLAEKLRAQKREQDTKKEPVSTNAVQRRVQE
  IVRFTRQLQRVHPNVLAKALTRGILHQDKNLVVINKPYGLPVHGGPGVQLCITDVLPILAKMLHGHKAEPLHLCH
  RLDKETTGVMVLAWDKDMAHQVQELFRTRQVVKKYWAITVHVPMPSAGVVDIPIVEKEAQGQQQHHKMTLSPSYR
  MDDGKMVKVRRSRNAQVAVTQYQVLSSTLSSALVELQPITGIKHQLRVHLSFGLDCPILGDHKYSDWNRLAPQKL
  SVGTLKKLGLEQSKARYIPLHLHARQLILPALGSGKEELNLVCKLPRFFVHSLHRLRLEMPNEDQNENNEAKCLG
  AQ

• Structural information:
  • Interpro: IPR020103  IPR006224  IPR006145  
  • Prosite: PS01129
  • CDD: cd02869
  • PDB: 5UBA
  • PDBsum: 5UBA
  • STRING: ENSP00000298317
• Other Databases: GeneCards:  RPUSD4  Malacards:  RPUSD4

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:0008033	tRNA processing	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	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)