CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1)

2019-04-01  

Identity

HGNC
LOCATION
17q12
LOCUSID
ALIAS
CAB1,CACNLB1,CCHLB1
FUSION GENES

Other Information

Locus ID:

NCBI: 782
MIM: 114207
HGNC: 1401
Ensembl: ENSG00000067191

Variants:

dbSNP: 782
ClinVar: 782
TCGA: ENSG00000067191
COSMIC: CACNB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067191ENST00000344140Q02641
ENSG00000067191ENST00000394303Q02641
ENSG00000067191ENST00000394310Q02641
ENSG00000067191ENST00000622445Q6TME4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Phase 2 - plateau phaseREACTOMER-HSA-5576893

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
210984462010MicroRNA-328 contributes to adverse electrical remodeling in atrial fibrillation.114
198211652010Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits.11
271291992016Fluorescence Resonance Energy Transfer-based Structural Analysis of the Dihydropyridine Receptor α1S Subunit Reveals Conformational Differences Induced by Binding of the β1a Subunit.0
292127692018Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β<sub>1a</sub> subunit (CACNB1).0

Citation

Dessen P

CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57793/cacnb1