Entity Details

Primary name KCNC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48547
EntryNameKCNC1_HUMAN
FullNamePotassium voltage-gated channel subfamily C member 1
TaxID9606
Evidenceevidence at protein level
Length511
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesKCNC1

GO terms

Show/Hide Table
GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005886 plasma membrane
GO:0006813 potassium ion transport
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0032590 dendrite membrane
GO:0032809 neuronal cell body membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042734 presynaptic membrane
GO:0051260 protein homooligomerization
GO:0051262 protein tetramerization
GO:0071805 potassium ion transmembrane transport

Subcellular Location

Show/Hide Table
Subcellular Location
Cell junction
Cell membrane
Cell projection

Domains

Show/Hide Table
DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR003131 Potassium channel tetramerisation-type BTB domainDomainDomain
IPR003968 Potassium channel, voltage dependent, KvFamilyFamily
IPR003974 Potassium channel, voltage dependent, Kv3FamilyFamily
IPR005403 Potassium channel, voltage dependent, Kv3.1FamilyFamily
IPR005821 Ion transport domainDomainDomain
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR027359 Voltage-dependent channel domain superfamilyFamilyHomologous superfamily
IPR028325 Voltage-gated potassium channelFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
616187 OMIMEpilepsy, progressive myoclonic 7 (EPM7)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. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00228 EnfluraneDrugbanksmall molecule
DB01069 PromethazineDrugbanksmall molecule
DB01110 MiconazoleDrugbanksmall molecule
DB06637 DalfampridineDrugbanksmall molecule