KCTD1 (potassium channel tetramerisation domain containing 1), also known as C18orf5, is a 257 amino acid protein that contains one BTB domain, suggesting an involvement in transcriptional control. The gene encoding KCTD1 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
Function:
May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in mammary gland, kidney, brain and ovary.
Post-translational modifications:
Sumoylated.
Similarity:
Contains 1 BTB (POZ) domain.
SWISS:
Q719H9
Gene ID:
284252
Database links:
Entrez Gene: 284252 Human
Omim: 613420 Human
SwissProt: Q719H9 Human
Unigene: 526630 Human
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