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

    Gene ID: 782, updated on 5-Aug-2018

    Summary

    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; Vega:OTTHUMG00000133217
    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

    Genomic context

    See CACNB1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (39173456..39197703, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37329709..37353956, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transfer RNA-Cys (GCA) 2-4 Neighboring gene ADP ribosylation factor like GTPase 5C Neighboring gene uncharacterized LOC105371768 Neighboring gene ribosomal protein L19 Neighboring gene SH3 and cysteine rich domain 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
      Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
      Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Oxytocin signaling pathway, conserved biosystem (from KEGG)
      Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
      Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
    • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
      Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC41896

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    high voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    voltage-gated calcium channel activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to amyloid-beta IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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)

    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
      5001..29248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000723.4NP_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, BP217857
      Consensus CDS
      CCDS42311.1
      UniProtKB/Swiss-Prot
      Q02641
      Related
      ENSP00000377840.3, OTTHUMP00000164286, ENST00000394303.7, OTTHUMT00000256945
      Conserved Domains (4) summary
      smart00072
      Location:238409
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:228408
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:5899
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17036
      Location:99166
      SH3; Src Homology 3 domain superfamily
    2. NM_199247.2NP_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/Swiss-Prot
      Q02641
      Related
      ENSP00000345461.5, OTTHUMP00000164287, ENST00000344140.5, OTTHUMT00000256946
      Conserved Domains (4) summary
      cd12041
      Location:99166
      SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1
      pfam00625
      Location:273453
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:5899
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:283454
      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_199248.2NP_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/Swiss-Prot
      Q02641
      Related
      ENSP00000377847.3, OTTHUMP00000260621, ENST00000394310.7, OTTHUMT00000444578
      Conserved Domains (4) summary
      cd12041
      Location:99166
      SH3_CACNB1; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta-1
      pfam00625
      Location:228408
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:5899
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:238409
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      39173456..39197703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257645.2XP_005257702.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X1

      Conserved Domains (4) summary
      smart00072
      Location:283454
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:273453
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:5899
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17036
      Location:99166
      SH3; Src Homology 3 domain superfamily
    2. XM_017025028.2XP_016880517.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X7

      Conserved Domains (2) summary
      smart00072
      Location:10181
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:1180
      Guanylate_kin; Guanylate kinase
    3. XM_024450920.1XP_024306688.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X5

      Conserved Domains (1) summary
      pfam00625
      Location:61241
      Guanylate_kin; Guanylate kinase
    4. XM_017025027.1XP_016880516.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X7

      Conserved Domains (2) summary
      smart00072
      Location:10181
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:1180
      Guanylate_kin; Guanylate kinase
    5. XM_017025026.1XP_016880515.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X5

      Conserved Domains (1) summary
      pfam00625
      Location:61241
      Guanylate_kin; Guanylate kinase
    6. XM_017025029.1XP_016880518.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X7

      Conserved Domains (2) summary
      smart00072
      Location:10181
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:1180
      Guanylate_kin; Guanylate kinase
    7. XM_017025025.1XP_016880514.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X4

    8. XM_006722072.2XP_006722135.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X3

      Conserved Domains (4) summary
      smart00072
      Location:236407
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:226406
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:1152
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17036
      Location:52119
      SH3; Src Homology 3 domain superfamily
    9. XM_017025024.1XP_016880513.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X2

    10. XM_017025030.1XP_016880519.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X8

    11. XM_005257646.3XP_005257703.1  voltage-dependent L-type calcium channel subunit beta-1 isoform X6

      Conserved Domains (3) summary
      pfam12052
      Location:5899
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17036
      Location:99166
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:283396
      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 ...
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