Voltage-gated potassium channel KCNC3

UniProt Q14003 Organism Homo sapiens Gene KCNC3

Also known as: KCNC3

Function

Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics. It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function. Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex.

Classification

Family (Pfam): PF02214 BTB_2, PF00520 Ion_trans
InterPro: BTB/POZ_dom, Ion_trans_dom, K_chnl_volt-dep_Kv, K_chnl_volt-dep_Kv3, K_chnl_volt-dep_Kv3.3, SKP1/BTB/POZ_sf, T1-type_BTB, VG_K_chnl, Volt_channel_dom_sf
Functional cluster: Nucleic Acid Metabolism & Repair Enzymes

Gene Ontology · 21

Disease associations

spinocerebellar ataxia type 13 MONDO:0011529

Drugs targeting this protein · 6

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Voltage-gated potassium channel KCNC1 1 shared papers
HCLS1-associated protein X-1 1 shared papers
Voltage-gated potassium channel KCNC3 1 shared papers
HCLS1-associated protein X-1 1 shared papers

Literature · 10 cited papers

Kv3.3 channels bind Hax-1 and Arp2/3 to assemble a stable local actin network that regulates channel gating. Cell · 2016
Functional analysis helps to define KCNC3 mutational spectrum in dutch ataxia cases. PLoS ONE · 2015
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. Neurobiol. Dis. · 2014
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. Biochem. J. · 2013
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. J. Physiol. (Lond.) · 2012
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS ONE · 2011
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum. Mutat. · 2010
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. Nat. Genet. · 2006
The DNA sequence and biology of human chromosome 19. Nature · 2004
Kv3.3 potassium channels in lens epithelium and corneal endothelium. Exp. Eye Res. · 2000

A document in the lmmol reference corpus — open public data (UniProt, GO, PDB, the literature graph) rendered as a single cross-linked page. Hover any link to preview its target.