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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. [provided by RefSeq, Jul 2008]
CACNB1 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1) is a Protein Coding gene. Diseases associated with CACNB1 include Malignant Hyperthermia and Headache. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005245 | voltage-gated calcium channel activity | IEA,IGI | 21883149 |
GO:0005262 | calcium channel activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0008331 | high voltage-gated calcium channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005891 | voltage-gated calcium channel complex | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0042383 | sarcolemma | IEA | -- |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
|
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
|
2 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
|
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
|
3 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
4 | CCR5 Pathway in Macrophages |
Androgen Signaling
.52
CCR5 Pathway in Macrophages
.52
|
Chemokine Signaling
.33
|
5 | Sweet Taste Signaling |
Melatonin Signaling
.72
Sweet Taste Signaling
.72
|
Cellular Effects of Sildenafil
.46
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IEA | -- |
GO:0007268 | chemical synaptic transmission | IBA | 21873635 |
GO:0007528 | neuromuscular junction development | IBA | 21873635 |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ibutilide | Approved | Pharma | Target, activator | 8 | ||
Ethanol | Approved | Pharma | Target | 3266 | ||
Nimodipine | Approved, Investigational | Pharma | Activator, Potentiation, Target, inhibitor | Ca2+ channel blocker (L-type) | 42 | |
Verapamil | Approved | Pharma | Channel blocker, Pore Blocker, Inhibitor, Inhibition, blocker | 134 | ||
Amiodarone | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor | 138 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
O-Desmethylverapamil (D-702) |
|
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 18a | · | 18b | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | - | ||||||
SP4: | |||||||
SP5: | |||||||
SP6: | - | ||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CACNB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CACNB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CACNB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cacnb1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CACNB1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CACNB1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CACNB1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CACNB1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | cacnb1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Ca-&bgr; 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | ccb-1 32 |
|
|
|
ccb-2 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9266 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
780422 | Benign: not provided | 39,175,529(-) | C/T | SYNONYMOUS_VARIANT | |
785568 | Benign: not provided | 39,175,598(-) | G/A | SYNONYMOUS_VARIANT | |
808256 | Uncertain Significance: not provided | 39,184,383(-) | C/A | MISSENSE_VARIANT | |
rs1266205915 | A colorectal cancer sample | p.Pro339Leu | |||
rs181552596 | Likely Benign: not specified | 39,184,868(-) | G/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3893012 | CNV | loss | 25118596 |
nsv1134647 | CNV | deletion | 24896259 |
nsv1138536 | CNV | deletion | 24896259 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv517435 | CNV | loss | 19592680 |
nsv833440 | CNV | loss | 17160897 |
nsv833441 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
malignant hyperthermia |
|
|
headache |
|
|
malignant hyperthermia susceptibility |
|
|
multiple pterygium syndrome, escobar variant |
|
|
arrhythmogenic right ventricular cardiomyopathy |
|
|