Version 5.4
Homo sapiens Protein: KCTD1
Summary
InnateDB Protein IDBP-726522.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCTD1
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000463041
InnateDB Gene IDBG-1830 (KCTD1)
Protein Structure
UniProt Annotation
Function May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent. {ECO:0000269PubMed:18358072, ECO:0000269PubMed:19115315}.
Subcellular Localization Nucleus {ECO:0000269PubMed:18358072}.
Disease Associations Scalp-ear-nipple syndrome (SENS) [MIM:181270]: A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families. {ECO:0000269PubMed:23541344}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in mammary gland, kidney, brain and ovary. {ECO:0000269PubMed:18358072}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051260 protein homooligomerization
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR000210 BTB/POZ-like
IPR003131 Potassium channel tetramerisation-type BTB domain
IPR011333 BTB/POZ fold
PFAM PF02214
PRINTS
PIRSF
SMART SM00225
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q719H9
PhosphoSite PhosphoSite-
TrEMBL J3KSG1
UniProt Splice Variant
Entrez Gene 284252
UniGene Hs.526630
RefSeq
HUGO HGNC:18249
OMIM 613420
CCDS CCDS11888
HPRD 11059
IMGT
EMBL AC007996 AC012588 AC090206 AF542549 AK289870 BC063652 CH471088
GenPept AAH63652 AAQ09532 BAF82559 EAX01222 EAX01223 EAX01225

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca