• Gene id: 8405

Gene Summary

• Gene Symbol: SPOP   Gene   UCSC   Ensembl
• Aliases: BTBD32, NEDMACE, NEDMIDF, NSDVS1, NSDVS2, TEF2
• Gene name: speckle type BTB/POZ protein
• Alternate names: speckle-type POZ protein, HIB homolog 1, roadkill homolog 1,
• Gene location: 17q21.33 (49678162: 49598883)     Exons: 1     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein bin
• OMIM: 602650

Protein Summary

• Protein general information: O43791  
  • Name: Speckle type POZ protein (HIB homolog 1) (Roadkill homolog 1)
  • Length: 374  
  • Mass: 42132
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSRVPSPPPPAEMSSGPVAESWCYTQIKVVKFSYMWTINNFSFCREEMGEVIKSSTFSSGANDKLKWCLRVNPKG
  LDEESKDYLSLYLLLVSCPKSEVRAKFKFSILNAKGEETKAMESQRAYRFVQGKDWGFKKFIRRDFLLDEANGLL
  PDDKLTLFCEVSVVQDSVNISGQNTMNMVKVPECRLADELGGLWENSRFTDCCLCVAGQEFQAHKAILAARSPVF
  SAMFEHEMEESKKNRVEINDVEPEVFKEMMCFIYTGKAPNLDKMADDLLAAADKYALERLKVMCEDALCSNLSVE
  NAAEILILADLHSADQLKTQAVDFINYHASDVLETSGWKSMVVSHPHLVAEAYRSLASAQCPFLGPPRKRLKQS

• Structural information:
  • Protein Domains: (31..16-)
    (/note="MATH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00129-)
    (173..29-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR002083  IPR011333  IPR008974  
  • Prosite: PS50097 PS50144
  • PDB: 2CR2 3HQH 3HQI 3HQL 3HQM 3HSV 3HTM 3HU6 3IVB 3IVQ 3IVV 4EOZ 4HS2 4J8Z 4O1V 6F8F 6F8G 6I41 6I5P 6I68 6I7A
  • PDBsum: 2CR2 3HQH 3HQI 3HQL 3HQM 3HSV 3HTM 3HU6 3IVB 3IVQ 3IVV 4EOZ 4HS2 4J8Z 4O1V 6F8F 6F8G 6I41 6I5P 6I68 6I7A
  • DIP: 50517
  • STRING: ENSP00000377001
• Other Databases: GeneCards:  SPOP  Malacards:  SPOP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0030162	regulation of proteolysis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq