• Gene id: 11137

Gene Summary

• Gene Symbol: PWP1   Gene   UCSC   Ensembl
• Aliases: IEF-SSP-9502
• Gene name: PWP1 homolog, endonuclein
• Alternate names: periodic tryptophan protein 1 homolog, endonuclein, keratinocyte protein IEF SSP 9502, nuclear phosphoprotein similar to S. cerevisiae PWP1,
• Gene location: 12q23.3 (107685731: 107713161)     Exons: 16     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transc

Protein Summary

• Protein general information: Q13610  
  • Name: Periodic tryptophan protein 1 homolog (Keratinocyte protein IEF SSP 9502)
  • Length: 501  
  • Mass: 55828
  • Tissue specificity: High levels seen in the placenta, skeletal muscle, kidney and pancreas while lower levels were seen in the heart, brain and lung.
• Sequence:

  MNRSRQVTCVAWVRCGVAKETPDKVELSKEEVKRLIAEAKEKLQEEGGGSDEEETGSPSEDGMQSARTQARPREP
  LEDGDPEDDRTLDDDELAEYDLDKYDEEGDPDAETLGESLLGLTVYGSNDQDPYVTLKDTEQYEREDFLIKPSDN
  LIVCGRAEQDQCNLEVHVYNQEEDSFYVHHDILLSAYPLSVEWLNFDPSPDDSTGNYIAVGNMTPVIEVWDLDIV
  DSLEPVFTLGSKLSKKKKKKGKKSSSAEGHTDAVLDLSWNKLIRNVLASASADNTVILWDMSLGKPAASLAVHTD
  KVQTLQFHPFEAQTLISGSYDKSVALYDCRSPDESHRMWRFSGQIERVTWNHFSPCHFLASTDDGFVYNLDARSD
  KPIFTLNAHNDEISGLDLSSQIKGCLVTASADKYVKIWDILGDRPSLVHSRDMKMGVLFCSSCCPDLPFIYAFGG
  QKEGLRVWDISTVSSVNEAFGRRERLVLGSARNSSISGPFGSRSSDTPMES

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000387365
• Other Databases: GeneCards:  PWP1  Malacards:  PWP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:1901838	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IDA	biological process
GO:0034773	histone H4-K20 trimethylation	IEA	biological process
GO:2000738	positive regulation of stem cell differentiation	IEA	biological process
GO:1990889	H4K20me3 modified histone binding	IEA	molecular function
GO:0033140	negative regulation of peptidyl-serine phosphorylation of STAT protein	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)