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voltage-dependent L-type Ca+2 channel beta-4; CAB4; Ca+2 channel voltage-dependent subunit beta 4 (CACNB4, CACNLB4)
Function:
- beta subunit of voltage-dependent Ca+2 channels, L-type Ca+2 channel subunit (1 of 4 subunits: alpha-1, alpha-2, beta & gamma)
- contributes to the function of the Ca+2 channel by increasing peak Ca+2 current, shifting the voltage dependencies of activation & inactivation, modulating G protein inhibition & controlling the alpha-1 subunit membrane targeting
Structure:
- belongs to the Ca+2 channel beta subunit family
- contains 1 SH3 domain
Alternative splicing: named isoforms=2
Expression:
- expressed predominantly in cerebellum & kidney
Pathology:
- defects in CACNB4 are associated with
a) susceptibility to idiopathic generalized epilepsy
b) juvenile myoclonic epilepsy
Related
L-type Ca+2 channel, long duration or slowly inactivating Ca+2 channel or dihydropyridine receptor (R-type Ca+2 channel)
voltage-dependent Ca+2 channel
General
phosphoprotein
voltage-dependent Ca+2 channel beta
Properties
SIZE: entity length = 520 aa
MW = 58 kD
COMPARTMENT: cellular membrane
MOTIF: Ser phosphorylation site {S39}
src homology 3 [SH3] domain
SITE: 118-153
Thr phosphorylation site {T405}
Ser phosphorylation site {S406}
Thr phosphorylation site {T411}
Ser phosphorylation site {S508}
Database Correlations
OMIM correlations
MORBIDMAP 601949
UniProt O00305
PFAM correlations
Entrez Gene 785
Kegg hsa:785
References
- UniProt :accession O00305
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB4