KCTD1

Chr 18q11.2

potassium channel tetramerization domain containing 1

MANE:: ENST00000580059.7

OMIM: 613420 ↗NCBI: 284252 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

KCTD1 · Q719H9

v62025-08-01

Predicted Aligned Error matrix for KCTD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.3/ 100

Confident

257 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)18%
Low(50–70)12%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

scalp-ear-nipple syndrome
0.78
neurodegenerative disease
0.52
alcohol drinking
0.38
exostosis
0.32
breast cancer
0.31
luminal A breast carcinoma
0.31
breast neoplasm
0.31
cholelithiasis
0.30
ankylosing spondylitis
0.30
estrogen-receptor positive breast cancer
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BTB/POZ domain-containing protein KCTD1

Is a regulator of different signaling pathways. Up-regulates ADCY5 thereby enhancing cAMP signaling, and is involved in the negative regulation of Wnt canonical, Hh and Notch signaling (PubMed:41086914). Is a repressor of transcriptional activation mediated by AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent (PubMed:18358072, PubMed:19115315, PubMed:33000225)