KCTD17 - potassium channel tetramerization domain containing 17 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79734

About KCTD17

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:37,051,742-37,063,390 (from NCBI)

This gene has 9 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues.

Summary

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-conjugating enzyme E3 Ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

KCTD17 Products (4)

mRNA	Protein	Name
NM_001282684.2	NP_001269613.2	BTB/POZ domain-containing protein KCTD17 isoform 1
NM_001282685.2	NP_001269614.2	BTB/POZ domain-containing protein KCTD17 isoform 3
NM_001282686.2	NP_001269615.2	BTB/POZ domain-containing protein KCTD17 isoform 4
NM_024681.4	NP_078957.3	BTB/POZ domain-containing protein KCTD17 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables cullin family protein binding	IPI IPI: Inferred from physical interaction	25270598	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	25270598	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in endoplasmic reticulum calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	25983243	GOA
involved in positive regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	25270598	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	25270598	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	25270598	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	25983243	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCTD17 Protein Structure

BTB_2

0
100
200
300
321 a.a.

Protein Preferred Names	Protein Names
BTB/POZ domain-containing protein KCTD17

KCTD17 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	KCTD17	Q8N5Z5	FKBP1A	Homo sapiens	Q0VDC6	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	FKBP1A	Homo sapiens	Q0VDC6	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	FKBP1A	Homo sapiens	Q0VDC6	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	UQCRC1	Homo sapiens	P31930	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	UQCRC1	Homo sapiens	P31930	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	UQCRC1	Homo sapiens	P31930	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	DMWD	Homo sapiens	G5E9A7	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	DMWD	Homo sapiens	G5E9A7	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	DMWD	Homo sapiens	G5E9A7	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	OR51E1	Homo sapiens	Q8TCB6	Y2H Array	32296183
Intra	KCTD17	Q8N5Z5	OR51E1	Homo sapiens	Q8TCB6	Y2H Prey Pooling	32296183
Intra	KCTD17	Q8N5Z5	OR51E1	Homo sapiens	Q8TCB6	Validated Y2H	32296183
Intra	KCTD17	Q8N5Z5	CLSTN1	Homo sapiens	O94985-2	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	CLSTN1	Homo sapiens	O94985-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	CLSTN1	Homo sapiens	O94985-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	APBB2	Homo sapiens	Q92870-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	APBB2	Homo sapiens	Q92870-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	APBB2	Homo sapiens	Q92870-2	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	CHAT	Homo sapiens	P28329-3	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	CHAT	Homo sapiens	P28329-3	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	CHAT	Homo sapiens	P28329-3	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	q96bh6_human	Homo sapiens	Q96BH6	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	q96bh6_human	Homo sapiens	Q96BH6	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	q96bh6_human	Homo sapiens	Q96BH6	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	PPIA	Homo sapiens	P62937-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	PPIA	Homo sapiens	P62937-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	PPIA	Homo sapiens	P62937-2	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	RAN	Homo sapiens	P62826	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	RAN	Homo sapiens	P62826	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	RAN	Homo sapiens	P62826	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	HSPA2	Homo sapiens	P54652	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	HSPA2	Homo sapiens	P54652	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	HSPA2	Homo sapiens	P54652	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	PPIB	Homo sapiens	P23284	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	PPIB	Homo sapiens	P23284	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	PPIB	Homo sapiens	P23284	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	KAT5	Homo sapiens	Q92993	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	KAT5	Homo sapiens	Q92993	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	KAT5	Homo sapiens	Q92993	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	CYCS	Homo sapiens	P99999	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	CYCS	Homo sapiens	P99999	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	CYCS	Homo sapiens	P99999	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	LRIF1	Homo sapiens	Q5T3J3	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	LRIF1	Homo sapiens	Q5T3J3	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	LRIF1	Homo sapiens	Q5T3J3	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	HIP1	Homo sapiens	O00291	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	HIP1	Homo sapiens	O00291	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	HIP1	Homo sapiens	O00291	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	HTRA2	Homo sapiens	O43464	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	HTRA2	Homo sapiens	O43464	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	HTRA2	Homo sapiens	O43464	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	PRPF40A	Homo sapiens	O75400-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	PRPF40A	Homo sapiens	O75400-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	PRPF40A	Homo sapiens	O75400-2	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	KCTD17	Q8N5Z5	CASP6	Homo sapiens	P55212	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	UBQLN1	Homo sapiens	Q9UMX0	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	STK16	Homo sapiens	O75716	Y2H Array	25416956
Intra	KCTD17	Q8N5Z5	ccsb orf id: 14249	Homo sapiens	EBI-22320186	Y2H Prey Pooling	32296183
Intra	KCTD17	Q8N5Z5	ccsb orf id: 14249	Homo sapiens	EBI-22320186	Y2H Array	32296183
Intra	KCTD17	Q8N5Z5	DMC1	Homo sapiens	Q14565	Y2H Array	31515488
Intra	KCTD17	Q8N5Z5	STK16	Homo sapiens	O75716	Validated Y2H	25416956
Intra	KCTD17	Q8N5Z5	PRPH	Homo sapiens	P41219	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	PRPH	Homo sapiens	P41219	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	PRPH	Homo sapiens	P41219	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	LAT	Homo sapiens	O43561-2	Y2H Prey Pooling	32296183
Intra	KCTD17	Q8N5Z5	LAT	Homo sapiens	O43561-2	Y2H Array	32296183
Intra	KCTD17	Q8N5Z5	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	KCTD17	Q8N5Z5	FLNA	Homo sapiens	P21333-2	Y2H Array	32814053
Intra	KCTD17	Q8N5Z5	FLNA	Homo sapiens	P21333-2	Validated Y2H	32814053
Intra	KCTD17	Q8N5Z5	FLNA	Homo sapiens	P21333-2	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Dystonia 26, Myoclonic	Myoclonic Dystonia 26 DYT26
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Parkinson Disease 20, Early-Onset	Early-Onset Parkinson Disease 20 PARK20 Parkinson'S Disease 20 Early-Onset Parkinson'S Disease 20 Parkinson Disease, Type 20, Early-Onset
Episodic Kinesigenic Dyskinesia 2	EKD2 Dystonia 19 Dyt19
Scalp-Ear-Nipple Syndrome	Finlay-Marks Syndrome Sen Syndrome SENS Scalp Ear Nipple Syndrome Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples Indian Childhood Cirrhosis
Ceroid Lipofuscinosis, Neuronal, 7	CLN7 Neuronal Ceroid Lipofuscinosis 7 Cln7 Disease Cln7 Disease, Late Infantile Mfsd8-Related Neuronal Ceroid Lipofuscinosis Turkish Variant Late Infantile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 7
Spasmodic Dystonia	Laryngeal Dystonia
Segmental Dystonia
Dystonia 3, Torsion, X-Linked	X-Linked Dystonia-Parkinsonism DYT3 Xdp Lubag Dystonia-Parkinsonism, X-Linked Torsion Dystonia-Parkinsonism, Filipino Type Dyt-Taf1 X-Linked Dystonia-Parkinsonism Syndrome X-Linked Torsion Dystonia-Parkinsonism Syndrome Dystonia Musculorum Deformans X-Linked Dystonia-Parkinsonism/Lubag Lubag Syndrome Dystonia-3 Torsion Dystonia-Parkinsonism Filipino Type X-Linked Torsion Dystonia 3 Dystonia, Torsion, X-Linked, Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS07194	KCTD17 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCTD17	MGD	MGI:1920094
Rattus norvegicus	KCTD17	RGD	RGD:1311154
Felis catus	KCTD17	VGNC	VGNC:63057
Macaca mulatta	KCTD17	VGNC	VGNC:73909
Canis familiaris	KCTD17	VGNC	VGNC:54152
Bos taurus	KCTD17	VGNC	VGNC:30506
Others	KCTD17	NCBI