• Gene id: 25803

Gene Summary

• Gene Symbol: SPDEF   Gene   UCSC   Ensembl
• Aliases: PDEF, bA375E1.3
• Gene name: SAM pointed domain containing ETS transcription factor
• Alternate names: SAM pointed domain-containing Ets transcription factor, prostate epithelium-specific Ets transcription factor, prostate-derived Ets factor, prostate-specific Ets,
• Gene location: 6p21.31 (34556332: 34537799)     Exons: 8     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expre
• OMIM: 617067

Protein Summary

• Protein general information: O95238  
  • Name: SAM pointed domain containing Ets transcription factor (Prostate epithelium specific Ets transcription factor) (Prostate specific Ets) (Prostate derived Ets factor)
  • Length: 335  
  • Mass: 37518
  • Tissue specificity: Expressed in a very restricted set of primarily hormone-regulated epithelial tissues with particularly high expression in the prostate gland. Significantly lower expression is seen in other hormone regulated tissues such as mammary gla
• Sequence:

  MGSASPGLSSVSPSHLLLPPDTVSRTGLEKAAAGAVGLERRDWSPSPPATPEQGLSAFYLSYFDMLYPEDSSWAA
  KAPGASSREEPPEEPEQCPVIDSQAPAGSLDLVPGGLTLEEHSLEQVQSMVVGEVLKDIETACKLLNITADPMDW
  SPSNVQKWLLWTEHQYRLPPMGKAFQELAGKELCAMSEEQFRQRSPLGGDVLHAHLDIWKSAAWMKERTSPGAIH
  YCASTSEESWTDSEVDSSCSGQPIHLWQFLKELLLKPHSYGRFIRWLNKEKGIFKIEDSAQVARLWGIRKNRPAM
  NYDKLSRSIRQYYKKGIIRKPDISQRLVYQFVHPI

• Structural information:
  • Protein Domains: (129..21-)
    (/note="PNT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00762"-)
  • Interpro: IPR000418  IPR003118  IPR013761  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061 PS51433
  • PDB: 1YO5 2DKX
  • PDBsum: 1YO5 2DKX
  • STRING: ENSP00000363149
• Other Databases: GeneCards:  SPDEF  Malacards:  SPDEF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	TAS	biological process
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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060576	intestinal epithelial cell development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0010455	positive regulation of cell fate commitment	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060480	lung goblet cell differentiation	IEA	biological process
GO:0010454	negative regulation of cell fate commitment	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Ovarian cancer	PMID:18567002
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R