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

    Gene ID: 782, updated on 2-Nov-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
    mouse all
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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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    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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