Entity Details

Primary name KCTD7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96MP8
EntryNameKCTD7_HUMAN
FullNameBTB/POZ domain-containing protein KCTD7
TaxID9606
Evidenceevidence at protein level
Length289
SequenceStatuscomplete
DateCreated2006-10-03
DateModified2021-06-02

Ontological Relatives

GenesKCTD7

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0032411 positive regulation of transporter activity
GO:0042802 identical protein binding
GO:0043687 post-translational protein modification
GO:0051260 protein homooligomerization
GO:0060081 membrane hyperpolarization
GO:0090461 glutamate homeostasis

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

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
611726 OMIMEpilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

43 interactions

InteractorPartnerSourcesPublicationsLink
KCTD7_HUMANCUL3_HUMANBioGRID, IntAct21145461 22748208 30295347 32296183 details
KCTD7_HUMANKAT5_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANTRIM3_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANVEZF1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANTRIM2_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANNIF3L_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANPAX6_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANMDFI_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANTCEA2_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANPRP18_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANZN587_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANKCTD7_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANIN80B_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANNTAQ1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANMEOX1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANATL4_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANTEANC_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANBAG4_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANINCA1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANZN552_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANKR133_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANGORS2_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANZN474_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANTERF1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANRAB4A_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANLNX1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANK2C75_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANZN417_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANGA2L2_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANPARVG_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANDVL3_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANREL_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANEFHC2_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANPIN1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANZN438_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANPSA1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANNXF1_HUMANBioGRID, IntAct32296183 details
KCTD7_HUMANUBC_HUMANBioGRID28190767 details
KCTD7_HUMANMEOX2_HUMANBioGRID32296183 details
KCTD7_HUMANAT7L2_HUMANBioGRID32296183 details
KCTD7_HUMANPPARA_HUMANBioGRID32296183 details
KCTD7_HUMANPRR22_HUMANBioGRID32296183 details
KCTD7_HUMANCEP97_HUMANBioGRID30404837 details