CACNB1

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.^[5][6][7]

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)[1] Band 17q12 Start 39,173,453 bp[1] End 39,197,703 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 D|11 61.5 cM Start 97,892,334 bp[2] End 97,913,860 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 782 12295 Ensembl ENSG00000067191 ENSMUSG00000020882 UniProt Q02641 Q8R3Z5 RefSeq (mRNA) NM_000723 NM_199247 NM_199248 NM_001159319 NM_001159320 NM_001282977 NM_001282978 NM_031173 NM_145121 RefSeq (protein) NP_000714 NP_954855 NP_954856 NP_001152791 NP_001152792 NP_001269906 NP_001269907 NP_112450 NP_660099 Location (UCSC) Chr 17: 39.17 – 39.2 Mb Chr 11: 97.89 – 97.91 Mb PubMed search [3] [4]
Wikidata
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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.^[7]

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.^[8]

See also

• Voltage-dependent calcium channel