BTB/POZ domain-containing protein KCTD1; K+ channel tetramerization domain-containing protein 1 (KCTD1, C18orf5)

Function

• may repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B & TFAP2C
• sumoylated
• can form homodimers
• interacts with TFAP2A, TFAP2B & TFAP2C via the BTB domain

Structure

• contains 1 BTB domain (POZ domain)

Compartment

nucleus

Expression

• expressed in mammary gland, kidney, brain & ovary

Pathology

• defects in KCTD1 are associated with scalp-ear-nipple syndrome

More general terms

• BTB/POZ domain containing protein
• nuclear protein
• phosphoprotein
• human longevity protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=284252
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:284252
• OMIM: https://mirror.omim.org/entry/613420
• OMIM: https://mirror.omim.org/entry/181270
• UniProt: http://www.uniprot.org/uniprot/Q719H9.html