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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]
KCTD1 (Potassium Channel Tetramerization Domain Containing 1) is a Protein Coding gene. Diseases associated with KCTD1 include Scalp-Ear-Nipple Syndrome and Progressive Myoclonus Epilepsy 1A. Among its related pathways are Sweet Taste Signaling and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription corepressor activity. An important paralog of this gene is KCTD15.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003714 | transcription corepressor activity | IDA | 19115315 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008134 | transcription factor binding | IPI | 19115315 |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 19115315 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0034451 | centriolar satellite | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sweet Taste Signaling |
Melatonin Signaling
.72
Sweet Taste Signaling
.72
Cellular Effects of Sildenafil
.46
|
Bitter Taste Signaling
.44
Sperm Motility
.37
|
2 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
3 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Aldosterone Signaling in Epithelial Cells
.47
Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
|
Cholera Infection
.40
|
4 | Hepatic ABC Transporters |
Hepatic ABC Transporters
.41
|
MODY (Maturity-Onset Diabetes of Young)
.41
|
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IDA | 19115315 |
GO:0051260 | protein homooligomerization | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCTD1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCTD1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCTD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCTD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kctd1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kctd1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCTD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC101748669 30 |
|
||
KCTD1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | KCTD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kctd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kctd1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10440 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1937 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720931 | Benign: not provided | 26,459,878(-) | G/A | SYNONYMOUS_VARIANT | |
722232 | Benign: not provided | 26,501,125(-) | G/A | SYNONYMOUS_VARIANT | |
763892 | Likely Benign: not provided | 26,455,866(-) | G/A | SYNONYMOUS_VARIANT | |
rs587776998 | Pathogenic: Scalp-ear-nipple syndrome. Scalp-ear-nipple syndrome (SENS) [MIM:181270] | 26,501,147(-) | G/Tp.Ala30Glu | MISSENSE_VARIANT | |
rs587776999 | Pathogenic: Scalp-ear-nipple syndrome. Pathogenic: Scalp-ear-nipple syndrome. Pathogenic: Scalp-ear-nipple syndrome. Scalp-ear-nipple syndrome (SENS) [MIM:181270]. Scalp-ear-nipple syndrome (SENS) [MIM:181270] | 26,501,144(-) | G/AG/CG/Tp.Pro31Leup.Pro31Arg | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1006523 | CNV | deletion | 20482838 |
esv1276406 | CNV | deletion | 17803354 |
esv2119422 | CNV | deletion | 18987734 |
esv2669356 | CNV | deletion | 23128226 |
esv2716885 | CNV | deletion | 23290073 |
esv2716886 | CNV | deletion | 23290073 |
esv2716887 | CNV | deletion | 23290073 |
esv2761995 | CNV | loss | 21179565 |
esv3380 | CNV | loss | 18987735 |
esv3555151 | CNV | deletion | 23714750 |
nsv1070873 | CNV | deletion | 25765185 |
nsv1125316 | CNV | deletion | 24896259 |
nsv1127623 | CNV | deletion | 24896259 |
nsv1133423 | CNV | deletion | 24896259 |
nsv1144830 | CNV | deletion | 24896259 |
nsv1149862 | CNV | deletion | 26484159 |
nsv1151195 | CNV | deletion | 26484159 |
nsv2235 | CNV | deletion | 18451855 |
nsv477544 | CNV | novel sequence insertion | 20440878 |
nsv961039 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
scalp-ear-nipple syndrome |
|
|
progressive myoclonus epilepsy 1a |
|
|
branchiooculofacial syndrome |
|
|
ectodermal dysplasia 4, hair/nail type |
|
|
osteogenesis imperfecta, type iii |
|
|