KCTD1 Gene: Potassium Channel Tetramerization Domain Containing 1
A comprehensive biomedical resource on KCTD1, including gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | KCTD1 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 284252 ncbi.nlm.nih.gov/gene/284252 |
| Ensembl ID | ENSG00000168679 |
| UniProt ID | Q719H9 |
| OMIM ID | 613421 |
| HGNC ID | 18249 |
| Aliases | BTBD25, C18orf5, KCTD1 |
Description
KCTD1 (potassium channel tetramerization domain containing 1) is a protein-coding gene located on chromosome 18q11.2. It encodes a protein that contains a BTB/POZ domain and is involved in transcriptional regulation, protein-protein interactions, and modulation of Wnt signaling. Mutations in KCTD1 are associated with scalp-ear-nipple syndrome (SENS) and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Scalp-Ear-Nipple Syndrome (SENS) | Missense mutations in KCTD1 disrupt its interaction with transcription factors, leading to aberrant development of ectodermal structures. | OMIM #613421; PMID: 23261303 |
| Breast Cancer | Altered KCTD1 expression may contribute to tumor progression through dysregulation of Wnt/β-catenin signaling. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Breast | 12.8 | Medium |
| Brain | 8.5 | Low |
| Testis | 20.1 | High |
| Kidney | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | Moderate expression |
| HEK293 (embryonic kidney) | 22.1 | High expression |
| SH-SY5Y (neuroblastoma) | 9.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296G>A (p.Arg99His) | Missense | Rare | Associated with SENS; disrupts BTB domain function |
| c.341C>T (p.Pro114Leu) | Missense | Rare | Reported in SENS; alters protein stability |
| c.1A>G (p.Met1Val) | Missense | Very rare | Potential loss of start codon; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the BTB domain (e.g., p.Arg99His) reduce transcriptional repression activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects proposed for SENS-associated mutations, as they impair wild-type KCTD1 function.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • positive regulation of transcription by RNA polymerase II (GO:0045944) | • multicellular organism development (GO:0007275) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Transcriptional regulation by BTB/POZ domain proteins
Protein Summary
The KCTD1 protein (UniProt Q719H9) contains a BTB/POZ domain at its N-terminus, which mediates homodimerization and interaction with transcription factors such as GLI1 and GLI3. It localizes to the nucleus and acts as a transcriptional repressor. KCTD1 is involved in ectodermal development and Wnt signaling modulation. Mutations in the BTB domain cause scalp-ear-nipple syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD12 Knockout HEK293 Cell Line | EDJ-KQ7508 | Human | 115207 | Details Get a Quote |
| KCTD18 Knockout HEK293 Cell Line | EDJ-KQ9242 | Human | 130535 | Details Get a Quote |
| KCTD19 Knockout HEK293 Cell Line | EDJ-KQ10467 | Human | 146212 | Details Get a Quote |
| KCTD11 Knockout HEK293 Cell Line | EDJ-KQ10545 | Human | 147040 | Details Get a Quote |
| KCTD13 Knockout HEK293 Cell Line | EDJ-KQ11002 | Human | 253980 | Details Get a Quote |
| KCTD1 Knockout HEK293 Cell Line | EDJ-KQ13903 | Human | 284252 | Details Get a Quote |
| KCTD14 Knockout HEK293 Cell Line | EDJ-KQ13910 | Human | 65987 | Details Get a Quote |
| KCTD15 Knockout HEK293 Cell Line | EDJ-KQ13911 | Human | 79047 | Details Get a Quote |
| KCTD16 Knockout HEK293 Cell Line | EDJ-KQ13912 | Human | 57528 | Details Get a Quote |
| KCTD17 Knockout HEK293 Cell Line | EDJ-KQ13913 | Human | 79734 | Details Get a Quote |
| KCTD11 Knockout A-549 Cell Line | EDJ-KQ37987 | Human | 147040 | Details Get a Quote |
| KCTD11 Knockout HCT 116 Cell Line | EDJ-KQ37988 | Human | 147040 | Details Get a Quote |
| KCTD11 Knockout HeLa Cell Line | EDJ-KQ37989 | Human | 147040 | Details Get a Quote |
| KCTD13 Knockout A-549 Cell Line | EDJ-KQ40128 | Human | 253980 | Details Get a Quote |
| KCTD13 Knockout HCT 116 Cell Line | EDJ-KQ40130 | Human | 253980 | Details Get a Quote |
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