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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 Susceptibility. Among its related pathways are CCR5 Pathway in Macrophages and PEDF Induced Signaling. 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

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

Genomics for CACNB1 Gene

Regulatory Elements for CACNB1 Gene

Enhancers for CACNB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G039174 1.3 Ensembl ENCODE dbSUPER 12.7 +22.8 22810 1.6 RB1 ZFP64 KLF17 ZNF48 RAD21 ZNF766 ZNF143 CREM ZNF680 ZNF654 MED1 CACNB1 RPL19 ENSG00000266469 LOC100287808 CDK12 PSMB3 TBC1D3 ARL5C LOC105371768
GH17G039237 1.1 Ensembl ENCODE 12.2 -40.2 -40223 2.7 PKNOX1 NFIB SREBF2 ZNF133 ZSCAN4 SIN3A GLI4 GLIS2 ZNF366 ELK1 RPL19 CACNB1 PGAP3 THRA LOC101929578 GC17M039259
GH17G039013 1.3 Ensembl ENCODE 10.2 +181.9 181927 3.6 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 FOS KLF13 FBXO47 ARL5C RPL19 CACNB1 CWC25 ENSG00000266588 GC17M039013 ENSG00000277426
GH17G039191 1.4 ENCODE dbSUPER 8.3 +0.7 706 11.7 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 ZNF610 GLIS1 ENSG00000266469 CDK12 SNORA21 MSL1 MED1 SNORD124 PGAP3 ENSG00000275665 RPL19 STAC2
GH17G039175 0.9 ENCODE dbSUPER 12.7 +21.8 21761 0.2 SMARCE1 JUN ZNF623 ARID1B FOSL1 JUND FOS KDM1A CACNB1 RPL19 LOC105371768
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNB1 on UCSC Golden Path with GeneCards custom track

Promoters for CACNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000283334 403 1401 PKNOX1 ARID4B SIN3A ZNF48 SLC30A9 GLIS2 KDM4B SP3 SP5 MXD4

Genomic Location for CACNB1 Gene

Chromosome:
17
Start:
39,173,456 bp from pter
End:
39,197,703 bp from pter
Size:
24,248 bases
Orientation:
Minus strand

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

Antibody Products

  • Abcam antibodies for CACNB1

No data available for DME Specific Peptides for CACNB1 Gene

Domains & 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

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
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.

Gene Ontology (GO) - Molecular Function for CACNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IEA,TAS 1385409
GO:0005262 calcium channel activity 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

Inhibitory RNA Products

Flow Cytometry 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 IBA,IEA --
GO:0016020 membrane IEA --
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with CACNB1: view

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:0006810 transport TAS 1385409
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission IBA --
GO:0007528 neuromuscular junction development IBA --
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

(12) 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 5
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 130
Ethanol Approved Pharma Target 2137
Magnesium Sulfate Approved, Vet_approved Pharma Target 179
Nimodipine Approved Pharma Potentiation, Activator, Target, inhibitor 25

(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:

Inhibitory RNA Products

Flow Cytometry 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, PaxDb, 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

Primer Products

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 35
  • 99.01 (n)
cow
(Bos Taurus)
Mammalia CACNB1 34 35
  • 93.37 (n)
dog
(Canis familiaris)
Mammalia CACNB1 34 35
  • 92.3 (n)
mouse
(Mus musculus)
Mammalia Cacnb1 34 16 35
  • 91.62 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNB1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNB1 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB1 35
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacnb1 35
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 36
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 36
  • 60 (a)
ccb-2 35
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9266 35
  • 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)

Paralogs for CACNB1 Gene

Paralogs for CACNB1 Gene

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

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 Sequence Context AA Info Type
VAR_036349 A colorectal cancer sample
rs181552596 Likely benign 39,184,868(+) GTCTG(A/C/G/T)GGGGG intron-variant, downstream-variant-500B
rs1000112331 -- 39,198,512(+) AGACT(C/T)TGGCG upstream-variant-2KB
rs1000150433 -- 39,187,935(+) TTGAA(C/T)CTGGA intron-variant
rs1000198737 -- 39,176,956(+) AAGGG(C/T)GTGGA intron-variant, downstream-variant-500B

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)

Relevant External Links 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

(1) MalaCards diseases for CACNB1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
malignant hyperthermia susceptibility
  • malignant hyperpyrexia due to anesthesia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.E. … Wieringa B. (Hum. Mol. Genet. 1993) 2 3 4 64
  2. Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels. (PMID: 10624822) Hogan K. … Powers P.A. (Neurosci. Lett. 1999) 3 4 64
  3. Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes. (PMID: 8905728) Fukuda K. … Satoh M. (Neurosci. Lett. 1996) 3 4 64
  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 R.G. … Hogan K. (Genomics 1993) 2 3 64
  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. (Circ. Res. 1993) 3 4 64

Products for CACNB1 Gene

Sources for CACNB1 Gene

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