InnateDB Protein
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IDBP-292716.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KCTD1
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Protein Name
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potassium channel tetramerisation domain containing 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000384367
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InnateDB Gene
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IDBG-1830 (KCTD1)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:18358072}.
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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.
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Tissue Specificity |
Expressed in mammary gland, kidney, brain and ovary. {ECO:0000269PubMed:18358072}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
3
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000210
BTB/POZ-like
IPR003131
Potassium channel tetramerisation-type BTB domain
IPR011333
BTB/POZ fold
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PFAM |
PF02214
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PRINTS |
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PIRSF |
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SMART |
SM00225
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TIGRFAMs |
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Modification |
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SwissProt |
Q719H9
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PhosphoSite |
PhosphoSite-
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TrEMBL |
J3KSG1
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UniProt Splice Variant |
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Entrez Gene |
284252
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UniGene |
Hs.526630
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RefSeq |
NP_001129677
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HUGO |
HGNC:18249
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OMIM |
613420
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CCDS |
CCDS11888
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HPRD |
11059
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IMGT |
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EMBL |
AC007996
AC012588
AC090206
AF542549
AK289870
BC063652
CH471088
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GenPept |
AAH63652
AAQ09532
BAF82559
EAX01222
EAX01223
EAX01225
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