Entity Details

Primary name KCNC3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14003
EntryNameKCNC3_HUMAN
FullNamePotassium voltage-gated channel subfamily C member 3
TaxID9606
Evidenceevidence at protein level
Length757
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesKCNC3

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0032590 dendrite membrane
GO:0032591 dendritic spine membrane
GO:0032809 neuronal cell body membrane
GO:0034765 regulation of ion transmembrane transport
GO:0042734 presynaptic membrane
GO:0043204 perikaryon
GO:0045211 postsynaptic membrane
GO:0051260 protein homooligomerization
GO:0051262 protein tetramerization
GO:0071805 potassium ion transmembrane transport

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell projection
Cytoplasm
Perikaryon

Domains

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DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR003131 Potassium channel tetramerisation-type BTB domainDomainDomain
IPR003968 Potassium channel, voltage dependent, KvFamilyFamily
IPR003974 Potassium channel, voltage dependent, Kv3FamilyFamily
IPR005404 Potassium channel, voltage dependent, Kv3.3FamilyFamily
IPR005821 Ion transport domainDomainDomain
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR021105 Potassium channel, voltage dependent, Kv3, inactivation domainDomainDomain
IPR027359 Voltage-dependent channel domain superfamilyFamilyHomologous superfamily
IPR028325 Voltage-gated potassium channelFamilyFamily

Diseases

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Disease IDSourceNameDescription
605259 OMIMSpinocerebellar ataxia 13 (SCA13)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00228 EnfluraneDrugbanksmall molecule
DB01069 PromethazineDrugbanksmall molecule
DB01110 MiconazoleDrugbanksmall molecule
DB06637 DalfampridineDrugbanksmall molecule

Interactions

0 interactions

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