• Gene id: 253980

Gene Summary

• Gene Symbol: KCTD13   Gene   UCSC   Ensembl
• Aliases: BACURD1, FKSG86, PDIP1, POLDIP1, hBACURD1
• Gene name: potassium channel tetramerization domain containing 13
• Alternate names: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1, BTB/POZ domain-containing protein KCTD13, CTD-2574D22.4, TNFAIP1-like protein, polymerase delta-interacting protein 1, potassium channel tetramerisation domain containing 13,
• Gene location: 16p11.2 (47209016: 47227649)     Exons: 9     NC_000017.11
• OMIM: 608947

Protein Summary

• Protein general information: Q8WZ19  
  • Name: BTB/POZ domain containing adapter for CUL3 mediated RhoA degradation protein 1 (hBACURD1) (BTB/POZ domain containing protein KCTD13) (Polymerase delta interacting protein 1) (TNFAIP1 like protein)
  • Length: 329  
  • Mass: 36357
  • Tissue specificity: Expressed in a wide variety of tissues. {ECO
• Sequence:

  MSAEASGPAAAAAPSLEAPKPSGLEPGPAAYGLKPLTPNSKYVKLNVGGSLHYTTLRTLTGQDTMLKAMFSGRVE
  VLTDAGGWVLIDRSGRHFGTILNYLRDGSVPLPESTRELGELLGEARYYLVQGLIEDCQLALQQKRETLSPLCLI
  PMVTSPREEQQLLASTSKPVVKLLHNRSNNKYSYTSTSDDNLLKNIELFDKLALRFHGRLLFLKDVLGDEICCWS
  FYGQGRKIAEVCCTSIVYATEKKQTKVEFPEARIFEETLNILIYETPRGPDPALLEATGGAAGAGGAGRGEDEEN
  REHRVRRIHVRRHITHDERPHGQQIVFKD

• Structural information:
  • Protein Domains: (41..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR003131  
  • Prosite: PS50097
  • PDB: 4UIJ
  • PDBsum: 4UIJ
  • STRING: ENSP00000455785
• Other Databases: GeneCards:  KCTD13  Malacards:  KCTD13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IBA	contributes to
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IBA	biological process
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0017049	GTP-Rho binding	IDA	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0016477	cell migration	IMP	biological process
GO:0050806	positive regulation of synaptic transmission	ISS	biological process
GO:0043149	stress fiber assembly	IMP	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IMP	biological process
GO:0061351	neural precursor cell proliferation	ISS	NOT|biological process
GO:0035024	negative regulation of Rho protein signal transduction	ISS	biological process
GO:0051260	protein homooligomerization	IEA	biological process
GO:0005634	nucleus	IEA	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:0006260	DNA replication	IEA	biological process
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0045740	positive regulation of DNA replication	IEA	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006260	DNA replication	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq