KCTD1

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]

Description

Potassium channel tetramerization domain containing 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli, Cytokinetic bridge, Centriolar satellite

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

18 (26454910 - 26657401)

Ensembl ID

ENSG00000134504  (ver. 103.38)

Orthologs

Mouse Kctd1: ENSMUSG00000036225

UniProt

Q719H9

neXtProt

NX_Q719H9

Human splice variants
Mouse splice variants

Protein structure