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K+ voltage-gated channel subfamily C member 3; KSHIIID; voltage-gated K+ channel subunit Kv3.3 (KCNC3)
Function:
- mediates voltage-dependent K+ permeability of excitable membranes
- opens & closes in response to the voltage difference across the membrane
- forms a K+-selective channel through which K+ may pass in accordance with the electrochemical gradient
- heterotetramer of K+ channel proteins
Structure:
- the segment S4 is probably the voltage-sensor & is characterized by a series of positively charged amino acids at every third position
- the tail may be important in modulation of channel activity &/or targeting of the channel to specific subcellular compartments
- belongs to the K+ channel family, C (Shaw) (TC 1.A.1.2) subfamily, Kv3.3/KCNC3 sub-subfamily
Compartment: membrane
Pathology:
- defects in KCNC3 are the cause of spinocerebellar ataxia type 13
Related
KCNC3 gene mutation
General
glycoprotein
K+ channel subfamily C
transmembrane 6 protein
Properties
SIZE: entity length = 757 aa
MW = 81 kD
COMPARTMENT: plasma membrane
MOTIF: cytoplasmic domain {1-290}
MOTIF: proline-rich region
SITE: 31-38
MOTIF: proline residue (SEVERAL)
glutamine-rich region {39-42}
MOTIF: glutamine residue (SEVERAL)
glycine-rich region {81-85}
glycine-rich region {229-234}
transmembrane domain {291-309}
exoplasmic loop {310-350}
MOTIF: N-glycosylation site {N320}
N-glycosylation site {N336}
transmembrane domain {351-370}
cytoplasmic loop {371-379}
transmembrane domain {380-398}
exoplasmic loop {399-411}
transmembrane domain {412-434}
cytoplasmic loop {435-447}
transmembrane domain {448-469}
exoplasmic loop {470-517}
MOTIF: N-glycosylation site {N483}
peptide motif {503-508}
transmembrane domain {518-539}
cytoplasmic domain {540-757}
MOTIF: proline-rich region
SITE: 577-587
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 596-599
MOTIF: proline residue (SEVERAL)
alanine-rich region {668-673}
MOTIF: alanine residue (SEVERAL)
ION-PERMEABILITY: K+
Database Correlations
OMIM correlations
MORBIDMAP 176264
UniProt Q14003
PFAM correlations
Entrez Gene 3748
Kegg hsa:3748
References
- UniProt :accession Q14003
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/KCNC3