• Gene id: 80324

Gene Summary

• Gene Symbol: PUS1   Gene   UCSC   Ensembl
• Aliases: MLASA1
• Gene name: pseudouridine synthase 1
• Alternate names: tRNA pseudouridine synthase A, mitochondrial tRNA pseudouridine synthase A, pseudouridylate synthase 1, tRNA pseudouridine synthase A, mitochondrial, tRNA pseudouridine(38-40) synthase, tRNA pseudouridylate synthase I, tRNA uridine isomerase I,
• Gene location: 12q24.33 (131929267: 131945895)     Exons: 10     NC_000012.12
• Gene summary(Entrez): This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of
• OMIM: 608109

Protein Summary

• Protein general information: Q9Y606  
  • Name: tRNA pseudouridine synthase A (EC 5.4.99.12) (tRNA pseudouridine(38 40) synthase) (tRNA pseudouridylate synthase I) (tRNA uridine isomerase I)
  • Length: 427  
  • Mass: 47470
  • Tissue specificity: Widely expressed. High levels of expression found in brain and skeletal muscle. {ECO
• Sequence:

  MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDE
  ERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVS
  AAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLS
  AETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGL
  VVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYP
  TIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD

• Structural information:
  • Interpro: IPR020103  IPR001406  IPR020097  IPR020095  IPR041708  
  • CDD: cd02568
  • PDB: 4IQM 4ITS 4J37 4NZ6 4NZ7
  • PDBsum: 4IQM 4ITS 4J37 4NZ6 4NZ7
  • STRING: ENSP00000365837
• Other Databases: GeneCards:  PUS1  Malacards:  PUS1

Diseases

Associated diseases	References
Myopathy with lactic acidosis and sideroblastic anaemia	KEGG:H00898
Myopathy with lactic acidosis and sideroblastic anaemia	KEGG:H00898
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq