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Aliases for CACNB1 Gene

Aliases for CACNB1 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1 2 3 5
  • Calcium Channel, Voltage-Dependent, Beta 1 Subunit 2 3
  • Calcium Channel Voltage-Dependent Subunit Beta 1 3 4
  • CACNLB1 3 4
  • CAB1 3 4
  • Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-1 Subunit 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-1 3
  • Calcium Channel, L Type, Beta 1 Polypeptide 3
  • CCHLB1 3

External Ids for CACNB1 Gene

Previous HGNC Symbols for CACNB1 Gene

  • CACNLB1

Previous GeneCards Identifiers for CACNB1 Gene

  • GC17M036833
  • GC17M039327
  • GC17M037240
  • GC17M037704
  • GC17M034583
  • GC17M037329
  • GC17M033125

Summaries for CACNB1 Gene

Entrez Gene Summary for CACNB1 Gene

  • 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]

GeneCards Summary for CACNB1 Gene

CACNB1 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1) is a Protein Coding gene. Diseases associated with CACNB1 include Malignant Hyperthermia and Malignant Hyperthermia Susceptibility. Among its related pathways are Fc-GammaR Pathway and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB2.

UniProtKB/Swiss-Prot for CACNB1 Gene

  • The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Gene Wiki entry for CACNB1 Gene

Additional gene information for CACNB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB1 Gene

Genomics for CACNB1 Gene

GeneHancer (GH) Regulatory Elements for CACNB1 Gene

Promoters and enhancers for CACNB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J039191 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 658.4 +0.7 705 11.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 RPL19 CACNB1 CDK12 SNORA21 MED1 STARD3 RPL23 LOC105371762 MSL1 FBXL20
GH17J039208 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 654.8 -11.9 -11928 2.5 HDGF ZNF493 ZNF133 SIN3A FEZF1 GLIS2 FOS RUNX3 KLF13 SMARCB1 CACNB1 STAC2 THRA GC17P039212 RPL19
GH17J039174 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.7 +22.8 22809 1.6 MYRF CTCF RB1 KLF17 KDM3A ZNF48 RAD21 HIC1 ZNF766 POLR2A LOC105371768 CACNB1 RPL19 PSMB3 TBC1D3 ARL5C
GH17J039013 Enhancer 1.2 Ensembl ENCODE 10.3 +181.9 181926 3.6 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 FOS ATF7 CAVIN1 TSHZ1 GC17M039013 MED1 CDK12 SNORA21 LOC105371762 FBXO47 RPL23 ARL5C STARD3 RPL19
GH17J039237 Enhancer 1 Ensembl ENCODE 12.2 -40.2 -40223 2.7 PKNOX1 NFIB SREBF2 ZSCAN4 SIN3A GLI4 BATF ZNF335 GLIS2 ELK1 LOC101929578 RPL19 CACNB1 PGAP3 THRA GC17M039259 GC17P039212
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CACNB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNB1 gene promoter:

Genomic Locations for CACNB1 Gene

Genomic Locations for CACNB1 Gene
chr17:39,173,456-39,197,703
(GRCh38/hg38)
Size:
24,248 bases
Orientation:
Minus strand
chr17:37,329,709-37,353,956
(GRCh37/hg19)

Genomic View for CACNB1 Gene

Genes around CACNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNB1 Gene

Proteins for CACNB1 Gene

  • Protein details for CACNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02641-CACB1_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-1
    Protein Accession:
    Q02641
    Secondary Accessions:
    • A8K114
    • O15331
    • Q02639
    • Q02640
    • Q8N3X9
    • Q9C085
    • Q9UD79

    Protein attributes for CACNB1 Gene

    Size:
    598 amino acids
    Molecular mass:
    65714 Da
    Quaternary structure:
    • The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with JSRP1. Interacts with RYR1. Interacts with CBARP (By similarity).
    SequenceCaution:
    • Sequence=CAA79825.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNB1 Gene

Post-translational modifications for CACNB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CACNB1 Gene

Domains & Families for CACNB1 Gene

Gene Families for CACNB1 Gene

Suggested Antigen Peptide Sequences for CACNB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q02641

UniProtKB/Swiss-Prot:

CACB1_HUMAN :
  • Belongs to the calcium channel beta subunit family.
Family:
  • Belongs to the calcium channel beta subunit family.
genes like me logo Genes that share domains with CACNB1: view

Function for CACNB1 Gene

Molecular function for CACNB1 Gene

UniProtKB/Swiss-Prot Function:
The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.
GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,beta 1 regulatory subunit,expressed in skeletal muscle,heart and brain isoforms,with CAG repeat

Phenotypes From GWAS Catalog for CACNB1 Gene

Gene Ontology (GO) - Molecular Function for CACNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IEA,IGI 21883149
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IEA --
GO:0008331 high voltage-gated calcium channel activity IBA --
genes like me logo Genes that share ontologies with CACNB1: view
genes like me logo Genes that share phenotypes with CACNB1: view

Animal Models for CACNB1 Gene

MGI Knock Outs for CACNB1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNB1 Gene

Localization for CACNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNB1 Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNB1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA,IBA --
GO:0016020 membrane IEA --
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with CACNB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNB1 Gene

Pathways & Interactions for CACNB1 Gene

genes like me logo Genes that share pathways with CACNB1: view

Gene Ontology (GO) - Biological Process for CACNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission IBA --
GO:0007528 neuromuscular junction development IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNB1: view

No data available for SIGNOR curated interactions for CACNB1 Gene

Drugs & Compounds for CACNB1 Gene

(24) Drugs for CACNB1 Gene - From: DrugBank, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ibutilide Approved Pharma activator, Target 6
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker, Target, inhibitor 135
Ethanol Approved Pharma Target 2326
Nimodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor Ca2+ channel blocker (L-type) 27
Amlodipine Approved Pharma Target, inhibitor Calcium channel blocker 512

(1) Additional Compounds for CACNB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
genes like me logo Genes that share compounds with CACNB1: view

Transcripts for CACNB1 Gene

Unigene Clusters for CACNB1 Gene

Calcium channel, voltage-dependent, beta 1 subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNB1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - - - - - - - - - -
SP2: -
SP3: -
SP4: - - - - -
SP5: - - - - - - -
SP6:
SP7: - - - - -
SP8: - - - -
SP9: -
SP10:

ExUns: 18a · 18b ^ 19a · 19b
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CACNB1 Gene

GeneLoc Exon Structure for
CACNB1
ECgene alternative splicing isoforms for
CACNB1

Expression for CACNB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNB1 Gene

This gene is overexpressed in Muscle - Skeletal (x11.7).

Protein differential expression in normal tissues from HIPED for CACNB1 Gene

This gene is overexpressed in Monocytes (35.8) and Frontal cortex (18.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNB1 Gene



Protein tissue co-expression partners for CACNB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNB1 Gene:

CACNB1

SOURCE GeneReport for Unigene cluster for CACNB1 Gene:

Hs.635

mRNA Expression by UniProt/SwissProt for CACNB1 Gene:

Q02641-CACB1_HUMAN
Tissue specificity: Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for CACNB1 Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with CACNB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNB1 Gene

Orthologs for CACNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNB1 34 33
  • 99.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNB1 34 33
  • 93.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB1 34 33
  • 92.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacnb1 16 34 33
  • 91.62 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNB1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNB1 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB1 34
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacnb1 34
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-&bgr; 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 35
  • 60 (a)
ccb-2 34
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9266 34
  • 62 (a)
OneToOne
Species where no ortholog for CACNB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CACNB1 Gene

ENSEMBL:
Gene Tree for CACNB1 (if available)
TreeFam:
Gene Tree for CACNB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNB1: view image

Paralogs for CACNB1 Gene

Paralogs for CACNB1 Gene

(4) SIMAP similar genes for CACNB1 Gene using alignment to 2 proteins:

  • CACB1_HUMAN
  • Q6TME4_HUMAN
genes like me logo Genes that share paralogs with CACNB1: view

Variants for CACNB1 Gene

Sequence variations from dbSNP and Humsavar for CACNB1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
VAR_036349 A colorectal cancer sample p.Pro339Leu
rs181552596 likely-benign, not specified 39,184,868(-) G/A/C/T intron_variant
rs1000112331 -- 39,198,512(-) C/T upstream_transcript_variant
rs1000150433 -- 39,187,935(-) C/T intron_variant
rs1000198737 -- 39,176,956(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CACNB1 Gene

Variant ID Type Subtype PubMed ID
esv3893012 CNV loss 25118596
nsv1134647 CNV deletion 24896259
nsv1138536 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv517435 CNV loss 19592680
nsv833440 CNV loss 17160897
nsv833441 CNV loss 17160897

Variation tolerance for CACNB1 Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB1 Gene

Disorders for CACNB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CACNB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
malignant hyperthermia
  • hyperpyrexia, malignant
malignant hyperthermia susceptibility
  • malignant hyperpyrexia
epileptic encephalopathy, early infantile, 6
  • ds
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNB1

genes like me logo Genes that share disorders with CACNB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNB1 Gene

Publications for CACNB1 Gene

  1. Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. (PMID: 8395940) Iles DE … Stewart AD (Human molecular genetics 1993) 2 3 4 58
  2. Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels. (PMID: 10624822) Hogan K … Powers PA (Neuroscience letters 1999) 3 4 58
  3. Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes. (PMID: 8905728) Fukuda K … Satoh M (Neuroscience letters 1996) 3 4 58
  4. Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping. (PMID: 8381767) Gregg RG … Hogan K (Genomics 1993) 2 3 58
  5. Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart. (PMID: 7916667) Collin T … Schwartz A (Circulation research 1993) 3 4 58

Products for CACNB1 Gene

Sources for CACNB1 Gene

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