• Gene id: 113000

Gene Summary

• Gene Symbol: RPUSD1   Gene   UCSC   Ensembl
• Aliases: C16orf40, RLUCL
• Gene name: RNA pseudouridine synthase domain containing 1
• Alternate names: RNA pseudouridylate synthase domain-containing protein 1, RNA pseudouridylate synthase domain containing 1, ribosomal large subunit pseudouridine synthase C-like protein,
• Gene location: 16p13.3 (788380: 784973)     Exons: 6     NC_000016.10
• OMIM: 612168

Protein Summary

• Protein general information: Q9UJJ7  
  • Name: RNA pseudouridylate synthase domain containing protein 1 (Ribosomal large subunit pseudouridine synthase C like protein)
  • Length: 312  
  • Mass: 34756
• Sequence:

  MEPGSVENLSIVYRSRDFLVVNKHWDVRIDSKAWRETLTLQKQLRYRFPELADPDTCYGFRFCHQLDFSTSGALC
  VALNKAAAGSAYRCFKERRVTKAYLALLRGHIQESRVTISHAIGRNSTEGRAHTMCIEGSQGCENPKPSLTDLVV
  LEHGLYAGDPVSKVLLKPLTGRTHQLRVHCSALGHPVVGDLTYGEVSGREDRPFRMMLHAFYLRIPTDTECVEVC
  TPDPFLPSLDACWSPHTLLQSLDQLVQALRATPDPDPEDRGPRPGSPSALLPGPGRPPPPPTKPPETEAQRGPCL
  QWLSEWTLEPDS

• Structural information:
  • Interpro: IPR020103  IPR006145  
  • CDD: cd02869
  • PDB: 5VBB
  • PDBsum: 5VBB
  • STRING: ENSP00000455026
• Other Databases: GeneCards:  RPUSD1  Malacards:  RPUSD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:0000455	enzyme-directed rRNA pseudouridine synthesis	IBA	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:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq