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Aliases for CACNB1 Gene

Aliases for CACNB1 Gene

  • Calcium Channel, Voltage-Dependent, Beta 1 Subunit 2 3
  • CACNLB1 3 4 6
  • Calcium Channel Voltage-Dependent Subunit Beta 1 3 4
  • CCHLB1 3 6
  • 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

External Ids for CACNB1 Gene

Previous Symbols for CACNB1 Gene

  • CACNLB1

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 Channel, Voltage-Dependent, Beta 1 Subunit) is a Protein Coding gene. Diseases associated with CACNB1 include arrhythmogenic right ventricular cardiomyopathy and malignant hyperthermia susceptibility. Among its related pathways are MAPK signaling pathway and L1CAM interactions. 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 CACNB4.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB1 Gene

Genomics for CACNB1 Gene

Genomic Location for CACNB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNB1 Gene

Regulatory Elements 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 (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

Proteomics data for CACNB1 Gene at MOPED

Post-translational modifications for CACNB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNB1 Gene

Domains for CACNB1 Gene

Gene Families for CACNB1 Gene

HGNC:
  • CACN :Calcium channel subunits

UniProtKB/Swiss-Prot:

CACB1_HUMAN
Domain:
  • Contains 1 SH3 domain.:
    • Q02641
Family:
  • Belongs to the calcium channel beta subunit family.:
    • Q02641
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 TAS 1385409
GO:0005515 protein binding --
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:

miRNA for CACNB1 Gene

miRTarBase miRNAs that target CACNB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for CACNB1 Gene COMPARTMENTS Subcellular localization image for CACNB1 gene
Compartment Confidence
plasma membrane 5
cytosol 2
endoplasmic reticulum 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CACNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016529 sarcoplasmic reticulum IEA --
GO:0030315 T-tubule IEA --
genes like me logo Genes that share ontologies with CACNB1: view

Pathways 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:0006612 protein targeting to membrane IEA --
GO:0006810 transport TAS 1385409
GO:0006816 calcium ion transport --
GO:0007268 synaptic transmission IBA --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with CACNB1: view

Compounds for CACNB1 Gene

(2) HMDB Compounds for CACNB1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Verapamil
  • Akilen
52-53-9

(1) Drugbank Compounds for CACNB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amlodipine
  • Amlodipine Benzenesulfonate
88150-42-9 target inhibitor
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:

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 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 (11.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNB1 Gene

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.
genes like me logo Genes that share expressions with CACNB1: view

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 36
  • 99.01 (n)
  • 98.71 (a)
CACNB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNB1 36
  • 93.37 (n)
  • 99 (a)
CACNB1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB1 36
  • 92.3 (n)
  • 97.6 (a)
CACNB1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacnb1 36
  • 91.62 (n)
  • 96.82 (a)
Cacnb1 16
Cacnb1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNB1 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB1 37
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNB1 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB1 37
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacnb1 37
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 38
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea ccb-2 37
  • 29 (a)
OneToOne
ccb-1 38
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9266 37
  • 62 (a)
OneToOne
Species with no ortholog for CACNB1:
  • 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

Selected 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 MAF
rs16528 -- 39,192,196(+) AGGCT(C/T)TCCTA intron-variant
rs16529 -- 39,192,820(+) TGCCC(A/G)TCTCT intron-variant
rs16531 -- 39,193,402(+) TTTCC(C/T)GAGAG intron-variant
rs16532 -- 39,193,457(+) CACCA(C/G)GGTCC intron-variant, missense, reference
rs16533 -- 39,194,179(+) TCATA(A/G)CAACC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv833440 CNV Loss 17160897
dgv3161n71 CNV Loss 21882294
nsv833441 CNV Loss 17160897
nsv908203 CNV Loss 21882294
nsv517435 CNV Loss 19592680
nsv908204 CNV Gain 21882294

Relevant External Links for CACNB1 Gene

HapMap Linkage Disequilibrium report
CACNB1

Disorders for CACNB1 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. 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
  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
  5. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PMID: 1309651) Williams M.E. … Harpold M.M. (Neuron 1992) 3 4

Products for CACNB1 Gene

Sources for CACNB1 Gene

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