Tbio KCTD17 BTB/POZ domain-containing protein KCTD17

Protein Summary

Description

Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243). 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]

Uniprot Accession IDs

• Q8N5Z5
• B0QYA9
• B0QYB0
• O95517

Gene Name

• KCTD17

Ensembl ID

• ENST00000402077
• ENSP00000384391
• ENSG00000100379
• ENST00000403888
• ENSP00000385096

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.79
histone modification site profile	0.66
tissue sample	0.65
cellular component	0.6
small molecule perturbation	0.55

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 6.95   (req: < 5)

Gene RIFs: 1   (req: <= 3)

Antibodies: 98   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 6.95   (req: >= 5)

Gene RIFs: 1   (req: > 3)

Antibodies: 98   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (71)

Explore Interacting Targets

1 – 10 of 71

• See Interactions on String-DB

POLK

Tbio

Family:  Enzyme

Novelty:  0.01378154

p_int:  0.999999884

p_ni:  9.8e-8

p_wrong:  1.8e-8

Score:  0.169

Data Source:  BioPlex,STRINGDB

KCTD2

Tdark

Novelty:  0.42992811

p_int:  0.999999033

p_ni:  1.68e-7

p_wrong:  7.99e-7

Score:  0.744

Data Source:  BioPlex,STRINGDB

PDZK1P1

Tdark

p_int:  0.999998463

p_ni:  0.000001537

Data Source:  BioPlex

ZMYND8

Tbio

Family:  Epigenetic

Novelty:  0.05352096

p_int:  0.99999802

p_ni:  0.00000198

Data Source:  BioPlex

KCTD5

Tbio

Novelty:  0.07740057

p_int:  0.999987226

p_ni:  0.000012774

Score:  0.828

Data Source:  BioPlex,STRINGDB

SLC9A3R2

Tbio

Family:  Transporter

Novelty:  0.01401705

p_int:  0.999924874

p_ni:  0.000075126

Score:  0.155

Data Source:  BioPlex,STRINGDB

POLRMT

Tbio

Family:  Enzyme

Novelty:  0.01398067

p_int:  0.999909945

p_ni:  0.000090055

Score:  0.171

Data Source:  BioPlex,STRINGDB

ZNF687

Tbio

Family:  TF

Novelty:  0.14707532

p_int:  0.999890439

p_ni:  0.000109561

Data Source:  BioPlex

CDC42BPA

Tchem

Family:  Kinase

Novelty:  0.02575412

p_int:  0.999885558

p_ni:  0.000114436

p_wrong:  7e-9

Data Source:  BioPlex

THAP9

Tbio

Family:  TF

Novelty:  0.25915023

p_int:  0.999843399

p_ni:  1.2e-8

p_wrong:  0.00015659

Score:  0.212

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (0)

No pathways found

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (10)

Functions (2)

Components (3)

Processes (5)

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GO Term	Evidence	Assigned by
cullin family protein binding	Inferred from Physical Interaction (IPI)	UniProtKB
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct

Disease Associations ()

No disease associations found

GWAS Traits (52)

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5

1 – 5 of 52

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
red blood cell distribution width	EFO_0005192	8	12	17		99.9
hemoglobin measurement	EFO_0004509	15	8	18		99.7
mean corpuscular volume	EFO_0004526	10	5	12		98.8
HbA1c measurement	EFO_0004541	8	9	14		98.7
mean corpuscular hemoglobin concentration	EFO_0004528	12	4	12		98.6

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
red blood cell distribution width	EFO_0005192	17		99.9
hemoglobin measurement	EFO_0004509	18		99.7
mean corpuscular volume	EFO_0004526	12		98.8
HbA1c measurement	EFO_0004541	14		98.7
mean corpuscular hemoglobin concentration	EFO_0004528	12		98.6

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Cilium biogenesis/degradation
Coiled coil
Complete proteome
Cytoplasm
Disease mutation
Dystonia
Polymorphism
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
alkaline phosphatase measurement
aspartate aminotransferase measurement
asthma
bilirubin measurement
calcium measurement
clinical laboratory measurement
creatine kinase measurement
creatinine measurement
diastolic blood pressure
eosinophil count

MGI Phenotype Find Similar Targets

No Header	No Header
integument phenotype

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	potassium channel tetramerization domain containing 17	VGNC:5273	458804
Macaque	potassium channel tetramerization domain containing 17		696210
Mouse	potassium channel tetramerisation domain containing 17	MGI:1920094	72844
Rat	potassium channel tetramerization domain containing 17	RGD:1311154	300317
Dog	potassium channel tetramerization domain containing 17	VGNC:54152	481274

Species	Name	OMA	EggNOG	Inparanoid
Chimp	potassium channel tetramerization domain containing 17
Macaque	potassium channel tetramerization domain containing 17
Mouse	potassium channel tetramerisation domain containing 17
Rat	potassium channel tetramerization domain containing 17
Dog	potassium channel tetramerization domain containing 17

Publication Statistics

PubMed Score 6.95

PubMed score by year

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PubTator Score 3.56

PubTator score by year

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Related Publications

Text Mined References (14)

GeneRif Annotations (1)

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PMID	Year	Title