• Gene id: 79142

Gene Summary

• Gene Symbol: PHF23   Gene   UCSC   Ensembl
• Aliases: hJUNE-1b
• Gene name: PHD finger protein 23
• Alternate names: PHD finger protein 23, PDH-containing protein JUNE-1, PHD finger protein 23a,
• Gene location: 17p13.1 (49813952: 49805204)     Exons: 24     NC_000003.12
• OMIM: 612910

Protein Summary

• Protein general information: Q9BUL5  
  • Name: PHD finger protein 23 (PDH containing protein JUNE 1)
  • Length: 403  
  • Mass: 43818
  • Tissue specificity: Widely expressed in human tissues and various cell lines. {ECO
• Sequence:

  MLEAMAEPSPEDPPPTLKPETQPPEKRRRTIEDFNKFCSFVLAYAGYIPPSKEESDWPASGSSSPLRGESAADSD
  GWDSAPSDLRTIQTFVKKAKSSKRRAAQAGPTQPGPPRSTFSRLQAPDSATLLEKMKLKDSLFDLDGPKVASPLS
  PTSLTHTSRPPAALTPVPLSQGDLSHPPRKKDRKNRKLGPGAGAGFGVLRRPRPTPGDGEKRSRIKKSKKRKLKK
  AERGDRLPPPGPPQAPPSDTDSEEEEEEEEEEEEEEMATVVGGEAPVPVLPTPPEAPRPPATVHPEGVPPADSES
  KEVGSTETSQDGDASSSEGEMRVMDEDIMVESGDDSWDLITCYCRKPFAGRPMIECSLCGTWIHLSCAKIKKTNV
  PDFFYCQKCKELRPEARRLGGPPKSGEP

• Structural information:
  • Interpro: IPR011011  IPR001965  IPR019787  IPR013083  
  • STRING: ENSP00000322579
• Other Databases: GeneCards:  PHF23  Malacards:  PHF23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901097	negative regulation of autophagosome maturation	IBA	biological process
GO:1902902	negative regulation of autophagosome assembly	IBA	biological process
GO:0031398	positive regulation of protein ubiquitination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1901097	negative regulation of autophagosome maturation	IMP	biological process
GO:1902902	negative regulation of autophagosome assembly	IMP	biological process
GO:0031398	positive regulation of protein ubiquitination	IMP	biological process

Diseases

Associated diseases	References
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)