CACNB1

CACNB1
Identifiers
Aliases	CACNB1, CAB1, CACNLB1, CCHLB1, calcium voltage-gated channel auxiliary subunit beta 1
External IDs	OMIM: 114207; MGI: 102522; HomoloGene: 20186; GeneCards: CACNB1; OMA:CACNB1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	39,197,703 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	97,913,860 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; muscle of thigh; ; triceps brachii muscle; ; glutes; ; vastus lateralis muscle; ; Skeletal muscle tissue of rectus abdominis; ; Skeletal muscle tissue of biceps brachii; ; thoracic diaphragm; ; Brodmann area 10; ; deltoid muscle;
	Top expressed in
	triceps brachii muscle; ; muscle of thigh; ; temporal muscle; ; sternocleidomastoid muscle; ; skeletal muscle tissue; ; superior frontal gyrus; ; vastus lateralis muscle; ; primary visual cortex; ; digastric muscle; ; extraocular muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	calcium channel activity; voltage-gated calcium channel activity; voltage-gated ion channel activity; high voltage-gated calcium channel activity;
Cellular component	membrane; plasma membrane; sarcolemma; voltage-gated calcium channel complex;
Biological process	regulation of ion transmembrane transport; cardiac conduction; regulation of voltage-gated calcium channel activity; neuromuscular junction development; ion transport; calcium ion transmembrane transport; calcium ion transport; transport; chemical synaptic transmission; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel; cellular response to amyloid-beta;
	Sources:Amigo / QuickGO
Orthologs
	782
	12295
	ENSG00000067191
	ENSMUSG00000020882
	Q02641
	Q8R3Z5
	NM_000723; NM_199247; NM_199248
NM_001159319; NM_001159320; NM_001282977; NM_001282978; NM_031173;
	NM_145121
	NP_000714; NP_954855; NP_954856
NP_001152791; NP_001152792; NP_001269906; NP_001269907; NP_112450;
	NP_660099
	Wikidata
View/Edit Human	View/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.

The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.