Entity Details

Primary name KCNN3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UGI6
EntryNameKCNN3_HUMAN
FullNameSmall conductance calcium-activated potassium channel protein 3
TaxID9606
Evidenceevidence at protein level
Length731
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesKCNN3

GO terms

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GOName
GO:0005516 calmodulin binding
GO:0005886 plasma membrane
GO:0006811 ion transport
GO:0016021 integral component of membrane
GO:0016286 small conductance calcium-activated potassium channel activity
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0071805 potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR004178 Calmodulin-binding domainDomainDomain
IPR013099 Potassium channel domainDomainDomain
IPR015449 Potassium channel, calcium-activated, SKFamilyFamily
IPR036122 SK, calmodulin-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618658 OMIMZimmermann-Laband syndrome 3 (ZLS3)A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00721 ProcaineDrugbanksmall molecule
DB01110 MiconazoleDrugbanksmall molecule
DB09089 TrimebutineDrugbanksmall molecule