Cacnb1 calcium channel, voltage-dependent, beta 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cacnb1provided by MGI
Official Full Name: calcium channel, voltage-dependent, beta 1 subunitprovided by MGI
Primary source: MGI:MGI:102522
See related: Ensembl:ENSMUSG00000020882 AllianceGenome:MGI:102522
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CAB1; Cchb1; Cchlb1
Summary: Enables high voltage-gated calcium channel activity. Acts upstream of or within calcium ion transport and protein targeting to membrane. Located in T-tubule; presynapse; and sarcoplasmic reticulum. Part of voltage-gated calcium channel complex. Is expressed in several structures, including diaphragm; lower leg rest of mesenchyme; nervous system; skeletal musculature; and tail paraxial mesenchyme. Orthologous to human CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 23.5), cortex adult (RPKM 19.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 61.5 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (97892339..97913860, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (98001508..98023034, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that mutant variant V156A results in instability of protein subdomains of beta1a subunit leading to a phenotype of Ca(2+) dysregulation that partly resembles that of other malignant hypertension-linked mutations of DHPR alpha1S subunit.
Title: Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β(1a) subunit (CACNB1).
Structural and biophysical analyses of the skeletal dihydropyridine receptor beta subunit beta1a reveal critical roles of domain interactions for stability.
Title: Structural and biophysical analyses of the skeletal dihydropyridine receptor β subunit β(1a) reveal critical roles of domain interactions for stability.
These results provide new insights into the role of muscle-specific proteins on the structural arrangement of alpha1S intracellular loops and point to a new conformational effect of the beta1a subunit in supporting skeletal muscle excitation-contraction coupling.
Title: Fluorescence Resonance Energy Transfer-based Structural Analysis of the Dihydropyridine Receptor α1S Subunit Reveals Conformational Differences Induced by Binding of the β1a Subunit.
The present study reveals that the C-terminal of the beta1a subunit changes conformation in the presence of RyR1 consistent with an interaction between the C-terminal of beta1a and RyR1 in resting myotubes.
Title: Intramolecular ex vivo Fluorescence Resonance Energy Transfer (FRET) of Dihydropyridine Receptor (DHPR) β1a Subunit Reveals Conformational Change Induced by RYR1 in Mouse Skeletal Myotubes.
TnT3 facilitates Cavbeta1a nuclear recruitment, suggesting that the two proteins play a heretofore unknown role during early muscle differentiation in addition to their classical role in excitation-contraction coupling regulation.
Title: Troponin T3 regulates nuclear localization of the calcium channel Cavβ1a subunit in skeletal muscle.
The motif Leu(496)-Leu(500)-Trp(503) within the bet1a C-terminal tail plays a nonessential role in the bidirectional DHPR/RyR1 signaling that supports skeletal-type excitation-contraction coupling.
Title: Amino acid residues 489-503 of dihydropyridine receptor (DHPR) β1a subunit are critical for structural communication between the skeletal muscle DHPR complex and type 1 ryanodine receptor.
Cavbeta1a acts as a Cav-independent regulator of gene expression in MPCs, and is required for their normal expansion during myogenic development.
Title: The Cavβ1a subunit regulates gene expression and suppresses myogenin in muscle progenitor cells.
Data suggest that specific hydrophobic surface residues in calcium channel voltage-dependent beta1a subunit C-terminus bind to RyR1 and increase channel activity in lipid bilayers and thus may support skeletal muscle excitation-contraction coupling.
Title: An α-helical C-terminal tail segment of the skeletal L-type Ca2+ channel β1a subunit activates ryanodine receptor type 1 via a hydrophobic surface.
Cavbeta1 is predominantly expressed in the strata oriens and radiatum of the hippocampus, and only weakly in the cerebellum, in the developing mouse brain.
Title: Regional expression and subcellular localization of the voltage-gated calcium channel β subunits in the developing mouse brain.
The results of this study indicated that the skeletal muscle DHPR retrogradely regulates the patterning and formation of the Neuromuscular junction.
Title: Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Lis4 (e-PCR), detects polymorphism
- UniSTS:498526

CACNB1 (e-PCR)
- UniSTS:510338

G73122 (e-PCR)
- UniSTS:231385

MARC_6999-7000:996689898:1 (e-PCR)
- UniSTS:231385

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables high voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables high voltage-gated calcium channel activity	IGI Inferred from Genetic Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to amyloid-beta	ISO Inferred from Sequence Orthology more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of muscle contraction	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISO Inferred from Sequence Orthology more info
involved_in regulation of voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: voltage-dependent L-type calcium channel subunit beta-1

Names: calcium channel voltage-dependent subunit beta 1; voltage-dependent calcium channel beta1 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001159319.3 → NP_001152791.1 voltage-dependent L-type calcium channel subunit beta-1 isoform C

See identical proteins and their annotated locations for NP_001152791.1

Status: VALIDATED

Source sequence(s)

AL591209

Consensus CDS

CCDS48899.1

UniProtKB/TrEMBL

Q6DD95

Related

ENSMUSP00000103187.2, ENSMUST00000107562.2

Conserved Domains (3) summary

cd12041
Location:99 → 166

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

pfam00625
Location:228 → 408

Guanylate_kin; Guanylate kinase

pfam12052
Location:58 → 99

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
NM_001159320.2 → NP_001152792.1 voltage-dependent L-type calcium channel subunit beta-1 isoform D

See identical proteins and their annotated locations for NP_001152792.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 5. The resulting isoform (D) has shorter and distinct N- and C-termini compared to isoform E.

Source sequence(s)

AL591209

Consensus CDS

CCDS48898.1

UniProtKB/TrEMBL

A2A542, Q3U2N3

Related

ENSMUSP00000103186.3, ENSMUST00000107561.9

Conserved Domains (3) summary

cd12041
Location:52 → 119

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

pfam12052
Location:11 → 52

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl27059
Location:226 → 406

Guanylate_kin; Guanylate kinase
NM_001282977.2 → NP_001269906.1 voltage-dependent L-type calcium channel subunit beta-1 isoform E

Status: VALIDATED

Source sequence(s)

AL591209

UniProtKB/TrEMBL

I2FKE4

Conserved Domains (4) summary

smart00072
Location:283 → 454

GuKc; Guanylate kinase homologues

pfam00625
Location:273 → 453

Guanylate_kin; Guanylate kinase

pfam12052
Location:58 → 99

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl17036
Location:99 → 166

SH3; Src Homology 3 domain superfamily
NM_001282978.2 → NP_001269907.1 voltage-dependent L-type calcium channel subunit beta-1 isoform F

Status: VALIDATED

Source sequence(s)

AL591209

UniProtKB/TrEMBL

Q6DD95

Conserved Domains (3) summary

cd12041
Location:99 → 166

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

pfam12052
Location:58 → 99

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl27059
Location:220 → 400

Guanylate_kin; Guanylate kinase
NM_031173.5 → NP_112450.1 voltage-dependent L-type calcium channel subunit beta-1 isoform A

See identical proteins and their annotated locations for NP_112450.1

Status: VALIDATED

Source sequence(s)

AL591209

Consensus CDS

CCDS25336.1

UniProtKB/TrEMBL

A2A545, Q3U2N3

Related

ENSMUSP00000090412.5, ENSMUST00000092736.11

Conserved Domains (4) summary

cd12041
Location:99 → 166

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

smart00072
Location:283 → 454

GuKc; Guanylate kinase homologues

pfam00625
Location:273 → 453

Guanylate_kin; Guanylate kinase

pfam12052
Location:58 → 99

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
NM_145121.4 → NP_660099.2 voltage-dependent L-type calcium channel subunit beta-1 isoform B

Status: VALIDATED

Source sequence(s)

AL591209

Consensus CDS

CCDS25335.1

UniProtKB/Swiss-Prot

A2A544, O88517, Q7TPF2, Q8R3Z5, Q8R3Z6, Q9EPT9

UniProtKB/TrEMBL

A2A543

Related

ENSMUSP00000017552.7, ENSMUST00000017552.13

Conserved Domains (3) summary

pfam00625
Location:228 → 408

Guanylate_kin; Guanylate kinase

pfam12052
Location:58 → 99

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl17036
Location:99 → 166

SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

97892339..97913860 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245499.1 → XP_030101359.1 voltage-dependent L-type calcium channel subunit beta-1 isoform X4

Conserved Domains (1) summary

pfam00625
Location:1 → 180

Guanylate_kin; Guanylate kinase
XM_036156255.1 → XP_036012148.1 voltage-dependent L-type calcium channel subunit beta-1 isoform X3

UniProtKB/TrEMBL

I2FKE4

Conserved Domains (3) summary

cd12041
Location:52 → 119

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

pfam00625
Location:226 → 406

Guanylate_kin; Guanylate kinase

pfam12052
Location:11 → 52

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_030245500.2 → XP_030101360.1 voltage-dependent L-type calcium channel subunit beta-1 isoform X4

Conserved Domains (1) summary

pfam00625
Location:1 → 180

Guanylate_kin; Guanylate kinase
XM_006532092.4 → XP_006532155.1 voltage-dependent L-type calcium channel subunit beta-1 isoform X2

UniProtKB/Swiss-Prot

A2A544, O88517, Q7TPF2, Q8R3Z5, Q8R3Z6, Q9EPT9

Conserved Domains (3) summary

cd12041
Location:111 → 178

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

pfam00625
Location:240 → 420

Guanylate_kin; Guanylate kinase

pfam12052
Location:70 → 111

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_006532091.4 → XP_006532154.1 voltage-dependent L-type calcium channel subunit beta-1 isoform X1

UniProtKB/TrEMBL

I2FKE4

Conserved Domains (3) summary

cd12041
Location:111 → 178

SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1

pfam00625
Location:285 → 465

Guanylate_kin; Guanylate kinase

pfam12052
Location:70 → 111

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal