• Gene id: 284252

Gene Summary

• Gene Symbol: KCTD1   Gene   UCSC   Ensembl
• Aliases: C18orf5
• Gene name: potassium channel tetramerization domain containing 1
• Alternate names: BTB/POZ domain-containing protein KCTD1,
• Gene location: 18q11.2 (26657472: 26454909)     Exons: 10     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors a
• OMIM: 300195

Protein Summary

• Protein general information: Q719H9  
  • Name: BTB/POZ domain containing protein KCTD1 (Potassium channel tetramerization domain containing protein 1)
  • Length: 257  
  • Mass: 29405
  • Tissue specificity: Expressed in mammary gland, kidney, brain and ovary. {ECO
• Sequence:

  MSRPLITRSPASPLNNQGIPTPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPESRIGRLFDGTEPIVLDSLKQHY
  FIDRDGQMFRYILNFLRTSKLLIPDDFKDYTLLYEEAKYFQLQPMLLEMERWKQDRETGRFSRPCECLVVRVAPD
  LGERITLSGDKSLIEEVFPEIGDVMCNSVNAGWNHDSTHVIRFPLNGYCHLNSVQVLERLQQRGFEIVGSCGGGV
  DSSQFSEYVLRRELRRTPRVPSVIRIKQEPLD

• Structural information:
  • Protein Domains: (30..10-)
    (/note="BTB"-)
  • Interpro: IPR000210  IPR011333  IPR003131  
  • PDB: 5BXB 5BXD
  • PDBsum: 5BXB 5BXD
  • STRING: ENSP00000384367
• Other Databases: GeneCards:  KCTD1  Malacards:  KCTD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0051260	protein homooligomerization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
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: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: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:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq