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CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 [ Homo sapiens (human) ]

Gene ID: 782, updated on 28-Oct-2024

Summary

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Official Symbol
CACNB1provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:1401
See related
Ensembl:ENSG00000067191 MIM:114207; AllianceGenome:HGNC:1401
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAB1; CCHLB1; CACNLB1
Summary
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]
Expression
Broad expression in brain (RPKM 12.9), skin (RPKM 4.4) and 17 other tissues See more
Orthologs
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Genomic context

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See CACNB1 in Genome Data Viewer
Location:
17q12
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39173453..39197669, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40037330..40061546, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37329706..37353922, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:37310423-37310927 Neighboring gene tRNA-Cys (anticodon GCA) 2-4 Neighboring gene ARF like GTPase 5C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37321241-37322042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37322043-37322844 Neighboring gene uncharacterized LOC105371768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37331661-37332262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37333039-37333540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37333541-37334040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37340225-37340725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37349106-37349606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8451 Neighboring gene uncharacterized LOC124903996 Neighboring gene MPRA-validated peak2833 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12091 Neighboring gene ribosomal protein L19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37365492-37366158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37366159-37366825 Neighboring gene SH3 and cysteine rich domain 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37379624-37379793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37381456-37381956

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels. Hogan K, et al. Neurosci Lett, 1999 Dec 24. PMID 10624822
  2. Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits. Jangsangthong W, et al. Pflugers Arch, 2010 Feb. PMID 19821165
  3. Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene. Powers PA, et al. J Biol Chem, 1992 Nov 15. PMID 1385409
  4. Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes. Fukuda K, et al. Neurosci Lett, 1996 Oct 11. PMID 8905728
  5. Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart. Collin T, et al. Circ Res, 1993 Jun. PMID 7916667

See all (38) 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. 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.
  3. CACNB1, encoding cardiac L-type calcium channel beta 1 subunit, is a potential target for microRNA-328 in transgenic mice.
    Title: MicroRNA-328 contributes to adverse electrical remodeling in atrial fibrillation.
  4. Data show that the length-dependent mechanism of modulating inactivation kinetics of beta(2) calcium channel subunits can be confirmed and extended to the beta(1) calcium channel subunit.
    Title: Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC41896

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel regulator activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity TAS
Traceable Author Statement
more info
 PubMed 
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
  
involved_in cellular response to amyloid-beta IGI
Inferred from Genetic Interaction
more info
 PubMed 
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 
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
part_of L-type voltage-gated calcium channel complex ISO
Inferred from Sequence Orthology
more info
  
located_in T-tubule NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated calcium channel complex IGI
Inferred from Genetic Interaction
more info
 PubMed 

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
calcium channel, L type, beta 1 polypeptide
calcium channel, voltage-dependent, beta 1 subunit
dihydropyridine-sensitive L-type, calcium channel beta-1 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.

Genomic

  1. NG_052811.1 RefSeqGene

    Range
    5035..29251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000723.5 → NP_000714.3  voltage-dependent L-type calcium channel subunit beta-1 isoform 1

    See identical proteins and their annotated locations for NP_000714.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as beta-1b2, betaA, and beta-1B, encodes the longest isoform (1).
    Source sequence(s)
    AC004408, AK289729, BC037311
    Consensus CDS
    CCDS42311.1
    UniProtKB/Swiss-Prot
    A8K114, O15331, Q02639, Q02640, Q02641, Q8N3X9, Q9C085, Q9UD79
    UniProtKB/TrEMBL
    Q59GD3
    Related
    ENSP00000377840.3, ENST00000394303.8
    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

  2. NM_199247.3 → NP_954855.1  voltage-dependent L-type calcium channel subunit beta-1 isoform 2

    See identical proteins and their annotated locations for NP_954855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as beta-1M, betaC, and beta-1a, differs in the 3' UTR and has multiple coding region differences, compared to variant 1. It encodes isoform 2 which has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BP217857, M76560, M92301, M92302
    Consensus CDS
    CCDS11334.1
    UniProtKB/TrEMBL
    B7Z6N7
    Related
    ENSP00000345461.5, ENST00000344140.6
    Conserved Domains (4) summary
    cd12041
    Location:99 → 166
    SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1
    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
    cl17190
    Location:283 → 454
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

  3. NM_199248.3 → NP_954856.1  voltage-dependent L-type calcium channel subunit beta-1 isoform 3

    See identical proteins and their annotated locations for NP_954856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as beta-1b1, betaB, and beta-1c, differs in the 3' UTR and 3' coding region, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BP217857, M76560, M92302
    Consensus CDS
    CCDS45665.1
    UniProtKB/TrEMBL
    B7Z6N7
    Related
    ENSP00000377847.3, ENST00000394310.7
    Conserved Domains (4) 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
    cl17190
    Location:238 → 409
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    39173453..39197669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257645.3 → XP_005257702.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X1

    UniProtKB/TrEMBL
    Q59GD3
    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

  2. XM_017025025.2 → XP_016880514.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X3

    UniProtKB/TrEMBL
    Q59GD3

  3. XM_006722072.3 → XP_006722135.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    Q59GD3
    Conserved Domains (4) summary
    smart00072
    Location:236 → 407
    GuKc; Guanylate kinase homologues
    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
    cl17036
    Location:52 → 119
    SH3; Src Homology 3 domain superfamily

  4. XM_017025024.2 → XP_016880513.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X6

    UniProtKB/TrEMBL
    Q59GD3

  5. XM_047436675.1 → XP_047292631.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X5

  6. XM_005257646.4 → XP_005257703.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X4

    UniProtKB/TrEMBL
    B7Z4Q4
    Conserved Domains (3) summary
    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
    cl17190
    Location:283 → 396
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40037330..40061546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317086.1 → XP_054173061.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X1

  2. XM_054317087.1 → XP_054173062.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X2

  3. XM_054317088.1 → XP_054173063.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X3

  4. XM_054317090.1 → XP_054173065.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X5

  5. XM_054317089.1 → XP_054173064.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02641.3 GenPept UniProtKB/Swiss-Prot:Q02641

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