Entity Details

Primary name KCTD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ719H9
EntryNameKCTD1_HUMAN
FullNameBTB/POZ domain-containing protein KCTD1
TaxID9606
Evidenceevidence at protein level
Length257
SequenceStatuscomplete
DateCreated2006-07-25
DateModified2021-06-02

Ontological Relatives

GenesKCTD1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0008134 transcription factor binding
GO:0034451 centriolar satellite
GO:0042802 identical protein binding
GO:0045171 intercellular bridge
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051260 protein homooligomerization

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR003131 Potassium channel tetramerisation-type BTB domainDomainDomain
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
181270 OMIMScalp-ear-nipple syndrome (SENS)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

27 interactions

InteractorPartnerSourcesPublicationsLink
KCTD1_HUMANPROP1_HUMANI2D23732115 details
KCTD1_HUMANSDCB1_HUMANBioGRID, IntAct25416956 32296183 details
KCTD1_HUMANRPAC1_HUMANBioGRID, IntAct25416956 32296183 details
KCTD1_HUMANTPC2A_HUMANBioGRID, IntAct25416956 32296183 details
KCTD1_HUMANZBT25_HUMANBioGRID, IntAct25416956 details
KCTD1_HUMANPSA1_HUMANBioGRID, IntAct25416956 details
KCTD1_HUMANAAPK2_HUMANBioGRID, IntAct25416956 details
KCTD1_HUMANEPMIP_HUMANBioGRID, IntAct25416956 details
KCTD1_HUMANLMO3_HUMANBioGRID, IntAct25416956 32296183 details
KCTD1_HUMANLNX1_HUMANBioGRID, IntAct25416956 29892012 32296183 details
KCTD1_HUMANNTAQ1_HUMANBioGRID, IntAct25416956 31515488 details
KCTD1_HUMANKCD15_HUMANBioGRID, IntAct25416956 29665387 32296183 details
KCTD1_HUMANEXOS1_HUMANBioGRID, IntAct25416956 32296183 details
KCTD1_HUMANKCTD1_HUMANBioGRID, IntAct, MINT18358072 25416956 27152988 32296183 details
KCTD1_HUMANTGM7_HUMANBioGRID, IntAct32296183 details
KCTD1_HUMANMO4L2_HUMANBioGRID, IntAct32296183 details
KCTD1_HUMANUBS3A_HUMANBioGRID, IntAct32296183 details
KCTD1_HUMANRBTN1_HUMANBioGRID, IntAct32296183 details
KCTD1_HUMANPICK1_HUMANBioGRID, IntAct32296183 details
KCTD1_HUMANAP2A_HUMANBioGRID19115315 details
KCTD1_HUMANCTNB1_HUMANBioGRID24736394 details
KCTD1_HUMANUBC9_HUMANBioGRID21516116 25416956 details
KCTD1_HUMANTPC2B_HUMANBioGRID32296183 details
KCTD1_HUMANFXR1_HUMANMINT21653829 details
KCTD1_HUMANAP2B_HUMANBioGRID19115315 details
KCTD1_HUMANAP2C_HUMANBioGRID19115315 details
KCTD1_HUMANCEP97_HUMANBioGRID30404837 details