KCTD1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | KCTD1 |
| Official Name | potassium channel tetramerization domain containing 1 [Source:HGNC Symbol;Acc:HGNC:18249] |
| Ensembl ID | ENSG00000134504 |
| Bio databases IDs | |
| Aliases | potassium channel tetramerization domain containing 1 |
| Synonyms | 4933402K10RIK, C18orf5, LOC103694168, potassium channel tetramerisation domain containing 1, potassium channel tetramerization domain containing 1, VAD, Vad5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCTD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Domain of unknown function (DUF3504)
- Broad-Complex, Tramtrack and Bric a brac
- BTB_POZ
- transcription co-repressor
- transcription factor binding
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Vogt-Koyanagi-Harada disease
- tubulo-interstitial fibrosis
- scalp-ear-nipple syndrome
- medulloblastoma SHH subtype
- brain cancer
- tinnitus
- ocular sarcoidosis
- breast carcinoma
- sudden cardiac arrest
- male pattern hair loss
role in cell
- expression in
- proliferation
- degradation in
- ubiquitination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- centrosome
- cytoplasmic bridges
- cytosol
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCTD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- protein homooligomerization
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- transcription corepressor activity
- transcription factor binding