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Tbio
KCTD1
BTB/POZ domain-containing protein KCTD1

Protein Classes
Protein Summary
Description
May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent. 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 and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000317932
  • ENSP00000314831
  • ENSG00000134504
  • ENST00000408011
  • ENSP00000384367
  • ENST00000417602
  • ENSP00000408405
  • ENST00000579973
  • ENSP00000464170

Symbol
  • C18orf5
  • C18orf5
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
PubMedID
0.75
transcription factor
0.69
transcription factor perturbation
0.61
biological process
0.56
tissue sample
0.53


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 12.19   (req: < 5)
Gene RIFs: 6   (req: <= 3)
Antibodies: 102   (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: 12.19   (req: >= 5)
Gene RIFs: 6   (req: > 3)
Antibodies: 102   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
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
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
electrocardiography
1
1
79
54.3
balding measurement
1
1
1
48.8
sudden cardiac arrest
1
1
0
1.7
32.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
electrocardiography
79
54.3
balding measurement
1
48.8
sudden cardiac arrest
0
1.7
32.6
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
potassium channel tetramerization domain containing 1
710531
Mouse
MGI:1918269
106931
Dog
potassium channel tetramerization domain containing 1
480170
Horse
potassium channel tetramerization domain containing 1
VGNC:50944
100064531
Cow
potassium channel tetramerization domain containing 1
VGNC:30499
784587
Species
Name
OMA
EggNOG
Inparanoid
Macaque
potassium channel tetramerization domain containing 1
Mouse
Dog
potassium channel tetramerization domain containing 1
Horse
potassium channel tetramerization domain containing 1
Cow
potassium channel tetramerization domain containing 1
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q719H9-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (5)
Gene expression (Transcription) (R-HSA-74160)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
Reactome
RNA Polymerase II Transcription
Reactome
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Name
Explore in Pharos
Explore in Source
Gene expression (Transcription)
Generic Transcription Pathway
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
RNA Polymerase II Transcription
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Protein-Protein Interactions (37)
1 – 10 of 37
KCTD3
Tdark
Novelty: 0.33599775
p_int: 0.999999137
p_ni: 7e-9
p_wrong: 8.56e-7
Score: 0.377
Data Source: BioPlex,STRINGDB
TFAP2C
Tbio
Family: TF
Novelty: 0.00893737
Score: 0.991
Data Source: Reactome,STRINGDB
TFAP2B
Tbio
Family: TF
Novelty: 0.01383202
Score: 0.989
Data Source: Reactome,STRINGDB
TFAP2A
Tbio
Family: TF
Novelty: 0.00235655
Score: 0.987
Data Source: Reactome,STRINGDB
TFAP2E
Tbio
Family: TF
Novelty: 0.07487225
Score: 0.95
Data Source: STRINGDB
AP2B1
Tbio
Novelty: 0.00921093
Score: 0.928
Data Source: STRINGDB
TFAP2D
Tdark
Family: TF
Novelty: 0.18255944
Score: 0.926
Data Source: STRINGDB
UBE2I
Tbio
Novelty: 0.00267883
Score: 0.824
Data Source: STRINGDB
KCTD15
Tbio
Novelty: 0.05277304
Score: 0.737
Data Source: STRINGDB
KIAA1958
Tdark
Novelty: 1.68951686
Score: 0.729
Data Source: STRINGDB
Publication Statistics
PubMed Score  12.19

PubMed score by year
PubTator Score  99.47

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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