KCTD13 (potassium channel tetramerization domain containing 13)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 253980
• Gene name: Potassium channel tetramerization domain containing 13
• Gene symbol: KCTD13
• Synonyms (NCBI Gene): BACURD1, FKSG86, PDIP1, POLDIP1, hBACURD1
• Chromosome: 16
• Chromosome location: 16p11.2

miRNA Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1082729	hsa-miR-1	CLIP-seq
MIRT1082730	hsa-miR-1193	CLIP-seq
MIRT1082731	hsa-miR-206	CLIP-seq
MIRT1082732	hsa-miR-2392	CLIP-seq
MIRT1082733	hsa-miR-3144-5p	CLIP-seq
MIRT1082734	hsa-miR-3150a-3p	CLIP-seq
MIRT1082735	hsa-miR-3151	CLIP-seq
MIRT1082736	hsa-miR-3175	CLIP-seq
MIRT1082737	hsa-miR-3180	CLIP-seq
MIRT1082738	hsa-miR-3180-3p	CLIP-seq
MIRT1082739	hsa-miR-3191	CLIP-seq
MIRT1082740	hsa-miR-3196	CLIP-seq
MIRT1082741	hsa-miR-3202	CLIP-seq
MIRT1082742	hsa-miR-3605-5p	CLIP-seq
MIRT1082743	hsa-miR-3908	CLIP-seq
MIRT1082744	hsa-miR-3918	CLIP-seq
MIRT1082745	hsa-miR-3921	CLIP-seq
MIRT1082746	hsa-miR-3942-5p	CLIP-seq
MIRT1082747	hsa-miR-4476	CLIP-seq
MIRT1082748	hsa-miR-4481	CLIP-seq
MIRT1082749	hsa-miR-4488	CLIP-seq
MIRT1082750	hsa-miR-4533	CLIP-seq
MIRT1082751	hsa-miR-4640-5p	CLIP-seq
MIRT1082752	hsa-miR-4652-5p	CLIP-seq
MIRT1082753	hsa-miR-4653-5p	CLIP-seq
MIRT1082754	hsa-miR-4682	CLIP-seq
MIRT1082755	hsa-miR-4697-5p	CLIP-seq
MIRT1082756	hsa-miR-4703-5p	CLIP-seq
MIRT1082757	hsa-miR-4716-5p	CLIP-seq
MIRT1082758	hsa-miR-4726-5p	CLIP-seq
MIRT1082759	hsa-miR-4743	CLIP-seq
MIRT1082760	hsa-miR-4745-5p	CLIP-seq
MIRT1082761	hsa-miR-4747-5p	CLIP-seq
MIRT1082762	hsa-miR-4758-5p	CLIP-seq
MIRT1082763	hsa-miR-4766-3p	CLIP-seq
MIRT1082764	hsa-miR-4779	CLIP-seq
MIRT1082765	hsa-miR-491-5p	CLIP-seq
MIRT1082766	hsa-miR-541	CLIP-seq
MIRT1082767	hsa-miR-613	CLIP-seq
MIRT1082768	hsa-miR-654-5p	CLIP-seq
MIRT1082769	hsa-miR-760	CLIP-seq
MIRT1082770	hsa-miR-765	CLIP-seq
MIRT1082771	hsa-miR-873	CLIP-seq
MIRT1082772	hsa-miR-939	CLIP-seq
MIRT2020672	hsa-miR-3179	CLIP-seq
MIRT1082741	hsa-miR-3202	CLIP-seq
MIRT2252343	hsa-miR-1293	CLIP-seq
MIRT2252344	hsa-miR-3154	CLIP-seq
MIRT2252345	hsa-miR-3926	CLIP-seq
MIRT2252346	hsa-miR-4434	CLIP-seq
MIRT2252347	hsa-miR-4483	CLIP-seq
MIRT2252348	hsa-miR-450b-3p	CLIP-seq
MIRT2252349	hsa-miR-4516	CLIP-seq
MIRT2252350	hsa-miR-4531	CLIP-seq
MIRT2252351	hsa-miR-769-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	19782033
GO:0005515	Function	Protein binding	IPI	16189514, 19615732, 21145461, 21653829, 25416956, 28514442, 29892012, 32296183, 32814053, 33961781, 34591642
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0016477	Process	Cell migration	IMP	19782033
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	19782033
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0031267	Function	Small GTPase binding	IDA	19782033
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	19782033
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IBA
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IEA
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	19782033
GO:0035024	Process	Negative regulation of Rho protein signal transduction	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 27152988, 32296183
GO:0043149	Process	Stress fiber assembly	IMP	19782033
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	19782033
GO:0045740	Process	Positive regulation of DNA replication	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0051260	Process	Protein homooligomerization	IEA
GO:0061351	Process	Neural precursor cell proliferation	ISS

Other IDs

• MIM: 608947
• HGNC: 22234
• e!Ensembl: ENSG00000174943

Protein

• UniProt ID: Q8WZ19
• Protein 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)
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission (PubMed:19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degrada
• PDB: 4UIJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	43 → 133	BTB/POZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a wide variety of tissues. {ECO:0000269|PubMed:11593007}.
• Sequence:

  MSAEASGPAAAAAPSLEAPKPSGLEPGPAAYGLKPLTPNSKYVKLNVGGSLHYTTLRTLT
  GQDTMLKAMFSGRVEVLTDAGGWVLIDRSGRHFGTILNYLRDGSVPLPESTRELGELLGE
  ARYYLVQGLIEDCQLALQQKRETLSPLCLIPMVTSPREEQQLLASTSKPVVKLLHNRSNN
  KYSYTSTSDDNLLKNIELFDKLALRFHGRLLFLKDVLGDEICCWSFYGQGRKIAEVCCTS
  IVYATEKKQTKVEFPEARIFEETLNILIYETPRGPDPALLEATGGAAGAGGAGRGEDEEN
  REHRVRRIHVRRHITHDERPHGQQIVFKD

• Sequence length: 329

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
KCTD13-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31402430		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22596160		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26391891	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	31402430		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	22596160		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31402430		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25430712	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31402430		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27668412, 31402430		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for KCTD13.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to KCTD13.