• Gene id: 83448

Gene Summary

• Gene Symbol: PUS7L   Gene   UCSC   Ensembl
• Gene name: pseudouridine synthase 7 like
• Alternate names: pseudouridylate synthase 7 homolog-like protein, pseudouridylate synthase 7 like,
• Gene location: 12q12 (43758789: 43718991)     Exons: 10     NC_000012.12
• OMIM: 611629

Protein Summary

• Protein general information: Q9H0K6  
  • Name: Pseudouridylate synthase 7 homolog like protein (EC 5.4.99. )
  • Length: 701  
  • Mass: 80700
• Sequence:

  MEEDTDYRIRFSSLCFFNDHVGFHGTIKSSPSDFIVIEIDEQGQLVNKTIDEPIFKISEIQLEPNNFPKKPKLDL
  QNLSLEDGRNQEVHTLIKYTDGDQNHQSGSEKEDTIVDGTSKCEEKADVLSSFLDEKTHELLNNFACDVREKWLS
  KTELIGLPPEFSIGRILDKNQRASLHSAIRQKFPFLVTVGKNSEIVVKPNLEYKELCHLVSEEEAFDFFKYLDAK
  KENSKFTFKPDTNKDHRKAVHHFVNKKFGNLVETKSFSKMNCSAGNPNVVVTVRFREKAHKRGKRPLSECQEGKV
  IYTAFTLRKENLEMFEAIGFLAIKLGVIPSDFSYAGLKDKKAITYQAMVVRKVTPERLKNIEKEIEKKRMNVFNI
  RSVDDSLRLGQLKGNHFDIVIRNLKKQINDSANLRERIMEAIENVKKKGFVNYYGPQRFGKGRKVHTDQIGLALL
  KNEMMKAIKLFLTPEDLDDPVNRAKKYFLQTEDAKGTLSLMPEFKVRERALLEALHRFGMTEEGCIQAWFSLPHS
  MRIFYVHAYTSKIWNEAVSYRLETYGARVVQGDLVCLDEDIDDENFPNSKIHLVTEEEGSANMYAIHQVVLPVLG
  YNIQYPKNKVGQWYHDILSRDGLQTCRFKVPTLKLNIPGCYRQILKHPCNLSYQLMEDHDIDVKTKGSHIDETAL
  SLLISFDLDASCYATVCLKEIMKHDV

• Structural information:
  • Protein Domains: (424..64-)
    (/note="TRUD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00342"-)
  • Interpro: IPR020103  IPR001656  IPR011760  IPR042214  
  • Prosite: PS50984
  • STRING: ENSP00000415899
• Other Databases: GeneCards:  PUS7L  Malacards:  PUS7L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:0001522	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:0016853	isomerase activity	IEA	molecular function
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

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881