• Gene id: 126789

Gene Summary

• Gene Symbol: PUSL1   Gene   UCSC   Ensembl
• Gene name: pseudouridine synthase like 1
• Alternate names: tRNA pseudouridine synthase-like 1, pseudouridylate synthase like 1, tRNA pseudouridylate synthase-like 1, tRNA-uridine isomerase-like 1,
• Gene location: 1p36.33 (4704136: 4669773)     Exons: 19     NC_000017.11

Protein Summary

• Protein general information: Q8N0Z8  
  • Name: tRNA pseudouridine synthase like 1 (EC 5.4.99. ) (tRNA pseudouridylate synthase like 1) (tRNA uridine isomerase like 1)
  • Length: 303  
  • Mass: 33233
• Sequence:

  MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFTISSRTDAGVHALSNA
  AHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFHARHAATSRTYLYRLATGCHRRDELPVFERN
  LCWTLPADCLDMVAMQEAAQHLLGTHDFSAFQSAGSPVPSPVRTLRRVSVSPGQASPLVTPEESRKLRFWNLEFE
  SQSFLYRQVRRMTAVLVAVGLGALAPAQVKTILESQDPLGKHQTRVAPAHGLFLKSVLYGNLGAASCTLQGPQFG
  SHG

• Structural information:
  • Interpro: IPR020103  IPR001406  IPR020097  IPR020095  
  • STRING: ENSP00000368318
• Other Databases: GeneCards:  PUSL1  Malacards:  PUSL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031119	tRNA pseudouridine synthesis	IBA	biological process
GO:0009982	pseudouridine synthase activity	IBA	molecular function
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:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray