• Gene id: 79734

Gene Summary

• Gene Symbol: KCTD17   Gene   UCSC   Ensembl
• Gene name: potassium channel tetramerization domain containing 17
• Alternate names: BTB/POZ domain-containing protein KCTD17,
• Gene location: 22q12.3 (37051724: 37063389)     Exons: 8     NC_000022.11
• Gene summary(Entrez): This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugati
• OMIM: 605385

Protein Summary

• Protein general information: Q8N5Z5  
  • Name: BTB/POZ domain containing protein KCTD17
  • Length: 321  
  • Mass: 35670
  • Tissue specificity: Highly expressed in brain. Highest expression is observed in the putamen and the thalamus. {ECO
• Sequence:

  MQTPRPAMRMEAGEAAPPAGAGGRAAGGWGKWVRLNVGGTVFLTTRQTLCREQKSFLSRLCQGEELQSDRDETGA
  YLIDRDPTYFGPILNFLRHGKLVLDKDMAEEGVLEEAEFYNIGPLIRIIKDRMEEKDYTVTQVPPKHVYRVLQCQ
  EEELTQMVSTMSDGWRFEQLVNIGSSYNYGSEDQAEFLCVVSKELHSTPNGLSSESSRKTKSTEEQLEEQQQQEE
  EVEEVEVEQVQVEADAQEKAQSSQDPANLFSLPPLPPPPLPAGGSRPHPLRPEAELAVRASPRPLARPQSCHPCC
  YKPEAPGCEAPDHLQGLGVPI

• Structural information:
  • Protein Domains: (31..10-)
    (/note="BTB"-)
  • Interpro: IPR000210  IPR011333  IPR003131  
  • PDB: 5A6R
  • PDBsum: 5A6R
  • STRING: ENSP00000385096
• Other Databases: GeneCards:  KCTD17  Malacards:  KCTD17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0045724	positive regulation of cilium assembly	IBA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0097602	cullin family protein binding	IBA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045724	positive regulation of cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0097602	cullin family protein binding	IPI	molecular function
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IMP	biological process

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray