Introduction of CACNB1
CACNB1, known as voltage-dependent L-type calcium channel subunit beta-1, is encoded by CACNB1 gene. It belongs to the calcium channel beta subunit family which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. 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.
Basic Information of CACNB1 | |
Protein Name | Voltage-dependent L-type calcium channel subunit beta-1 |
Gene Name | CACNB1 |
Aliases | CACNLB1 |
Organism | Homo sapiens (Human) |
UniProt ID | Q02641 |
Transmembrane Times | Peripheral membrane protein |
Length (aa) | 598 |
Sequence | MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGSTSSDTTSNSFVRQGSAESYTSRPSDSDVSLEEDREALRKEAERQALAQLEKAKTKPVAFAVRTNVGYNPSPGDEVPVQGVAITFEPKDFLHIKEKYNNDWWIGRLVKEGCEVGFIPSPVKLDSLRLLQEQKLRQNRLGSSKSGDNSSSSLGDVVTGTRRPTPPASAKQKQKSTEHVPPYDVVPSMRPIILVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKHIIIERSNTRSSLAEVQSEIERIFELARTLQLVALDADTINHPAQLSKTSLAPIIVYIKITSPKVLQRLIKSRGKSQSKHLNVQIAASEKLAQCPPEMFDIILDENQLEDACEHLAEYLEAYWKATHPPSSTPPNPLLNRTMATAALAASPAPVSNLQGPYLASGDQPLERATGEHASMHEYPGELGQPPGLYPSSHPPGRAGTLRALSRQDTFDADTPGSRNSAYTELGDSCVDMETDPSEGPGLGDPAGGGTPPARQGSWEDEEEDYEEELTDNRNRGRNKARYCAEGGGPVLGRNKNELEGWGRGVYIR |
Function of CACNB1 Membrane Protein
CACNB1 plays a vital role in many biological functions, which suggest it can be a potential biomarker in the clinic. Studies show CACNB1 is associated with various diseases, like malignant hyperthermia (MH) and MH susceptibility. Meanwhile, it is highly expressed in the brain, lung and other tissues, and is related to many pathways, such as cardiac conduction and NFAT and cardiac hypertrophy. It is documented that the homozygous expression of variant CACNB1-V156A has the potential to be a pathological variant, which is may be associated with the susceptibility of MH. CACNB1 is also regarded as a potential biomarker for autism spectrum disorder (ASD) therapy.
Fig.1 Structure of CACNB1 membrane protein.
Application of CACNB1 Membrane Protein in Literature
This article reports that the mutant variant V156A results in instability of protein subdomains of β1a subunit leading to a phenotype of Ca2+ dysregulation that partly resembles that of other MH-linked mutations of DHPR α1S subunit.
This article reveals that the expression of microRNAs in peripheral blood, serum and post-mortem brain tissue are possibly related to autism spectrum disorder (ASD). These results indicate that several genes, like CACNB1, could be potential biomarkers for ASD therapy.
Authors in this group conduct a meta-analysis approach to analyze the expression level of genes associated with colon cancer. These results suggest that a four-gene (VAMP1, P2RX5, CACNB1, and CRY2) expression signature may have prognostic and predictive value in colon cancer.
This article focuses on the structural and biophysical analyses of the skeletal DHPR β subunit β1a removal of the intrinsically disordered N and C termini and the hook region of β1a prevented oligomerization. The data show that intramolecular interactions between the SH3 and guanylate kinase domains play a role in the stability of β1a while also providing a conduit for allosteric signaling events.
This article evaluates the expression level of intracellular loops in intact cells using the FRET-based method. The results demonstrate that muscle-specific proteins play an important role on the structural arrangement of α1S intracellular loops and point to a new conformational effect of the β1a subunit in supporting skeletal muscle excitation-contraction coupling.
CACNB1 Preparation Options
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