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K+ voltage-gated channel subfamily A member 1; voltage-gated K+ channel subunit Kv1.1; HUKI; HBK1 (KCNA1)
Function:
- mediates voltage-dependent K+ permeability of excitable membranes
- assumes opened or closed conformation in response to the voltage difference across the membrane
- forms a K+-selective channel through which K+ may pass in accordance with their electrochemical gradient
- palmitoylated on Cys-243; which may be required for membrane targeting
- heterotetramer of K+ channel proteins
- binds KCNAB2 & PDZ domains of DLG1, DLG2 & DLG4 (putative)
- interacts with LGI1 within a complex containing LGI1, KCNA4 & KCNAB1 (putative)
Structure:
- the N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity &/or targeting of the channel to specific subcellular compartments
- the segment S4 is probably the voltage-sensor & is characterized by a series of positively charged amino acids at every third position
- belongs to the K+ channel family, A (Shaker) subfamily
Compartment: membrane
RNA editing:
- partially edited
- RNA editing varies from 17% in the caudate nucleus to 68% in the spinal cord & to 77% in the medulla
Pathology:
- defects in KCNA1 are the cause of:
a) episodic ataxia type 1
b) myokymia isolated type 1
Related
K+ channel protein KV1.1, HUKI or KCNA1 gene
General
glycoprotein
phosphoprotein
voltage-gated K+ channel alpha subunit
Properties
SIZE: entity length = 495 aa
MW = 56 kD
COMPARTMENT: cell nucleus
MOTIF: transmembrane domain {168-186}
N-glycosylation site {N207}
transmembrane domain {221-242}
cysteine residue {C243}
MODIFICATION: palmitate
COMPARTMENT: membrane
transmembrane domain {254-274}
transmembrane domain {290-309}
Ser phosphorylation site {S322}
transmembrane domain {326-345}
peptide motif {372-377}
transmembrane domain {387-408}
Ser phosphorylation site {S445}
peptide motif {493-495}
ION-PERMEABILITY: K+
Database Correlations
OMIM correlations
MORBIDMAP 176260
UniProt Q09470
PFAM correlations
Entrez Gene 3736
References
- UniProt :accession Q09470
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA1