U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 12295, updated on 9-Dec-2024

Summary

Go to the top of the page Help
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 and sarcoplasmic reticulum. Part of voltage-gated calcium channel complex. Is active in presynapse. Is expressed in several structures, including heart; lower leg rest of mesenchyme; nervous system; skeletal musculature; and urinary system. Orthologous to human CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in testis adult (RPKM 23.5), cortex adult (RPKM 19.4) and 23 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Cacnb1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5273 Neighboring gene STARR-positive B cell enhancer ABC_E10711 Neighboring gene nuclear encoded tRNA cysteine 54 (anticodon GCA) Neighboring gene STARR-positive B cell enhancer ABC_E5274 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:97861691-97862052 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:97864016-97864125 Neighboring gene STARR-positive B cell enhancer ABC_E11491 Neighboring gene ADP-ribosylation factor-like 5C Neighboring gene STARR-positive B cell enhancer ABC_E3013 Neighboring gene ribosomal protein L19 Neighboring gene SH3 and cysteine rich domain 2 Neighboring gene STARR-positive B cell enhancer ABC_E9372 Neighboring gene STARR-seq mESC enhancer starr_30655 Neighboring gene STARR-seq mESC enhancer starr_30656 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:97944979-97945162 Neighboring gene F-box and leucine-rich repeat protein 20

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Structural and biophysical analyses of the skeletal dihydropyridine receptor β subunit β(1a) reveal critical roles of domain interactions for stability. Norris NC, et al. J Biol Chem, 2017 May 19. PMID 28351836, Free PMC Article
  2. Organization of calcium channel beta1a subunits in triad junctions in skeletal muscle. Leuranguer V, et al. J Biol Chem, 2006 Feb 10. PMID 16317008
  3. Primary structure of the beta subunit of the DHP-sensitive calcium channel from skeletal muscle. Ruth P, et al. Science, 1989 Sep 8. PMID 2549640
  4. 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. Karunasekara Y, et al. FASEB J, 2012 Dec. PMID 22962299
  5. 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. Eltit JM, et al. J Biol Chem, 2014 Dec 26. PMID 25384984, Free PMC Article

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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).
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the top of the page Help

Alleles

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

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 
involved_in calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
  
Component Evidence Code Pubs
part_of L-type voltage-gated calcium channel complex ISO
Inferred from Sequence Orthology
more info
  
located_in T-tubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in T-tubule NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. NM_001430870.1 → NP_001417799.1  voltage-dependent L-type calcium channel subunit beta-1 isoform G

    Status: VALIDATED

    Source sequence(s)
    AL591209
    UniProtKB/Swiss-Prot
    A2A544, O88517, Q7TPF2, Q8R3Z5, Q8R3Z6, Q9EPT9

  6. NM_001430871.1 → NP_001417800.1  voltage-dependent L-type calcium channel subunit beta-1 isoform H

    Status: VALIDATED

    Source sequence(s)
    AL591209

  7. 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

  8. 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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    97892339..97913860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

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

    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

  5. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R3Z5.1 GenPept UniProtKB/Swiss-Prot:Q8R3Z5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous