Human Gene CACNB1 (ENST00000394303.8_11) from GENCODE V47lift37
  Description: calcium voltage-gated channel auxiliary subunit beta 1, transcript variant 1 (from RefSeq NM_000723.5)
Gencode Transcript: ENST00000394303.8_11
Gencode Gene: ENSG00000067191.17_14
Transcript (Including UTRs)
   Position: hg19 chr17:37,329,706-37,353,922 Size: 24,217 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr17:37,331,446-37,353,748 Size: 22,303 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:37,329,706-37,353,922)mRNA (may differ from genome)Protein (598 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CACB1_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent L-type calcium channel subunit beta-1; Short=CAB1; AltName: Full=Calcium channel voltage-dependent subunit beta 1;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side.
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.
SIMILARITY: Belongs to the calcium channel beta subunit family.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=CAA79825.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CACNB1
Diseases sorted by gene-association score: malignant hyperthermia susceptibility (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.97 RPKM in Muscle - Skeletal
Total median expression: 381.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.80174-0.556 Picture PostScript Text
3' UTR -685.241740-0.394 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR001452 - SH3_domain
IPR005443 - VDCC_L_b1su
IPR000584 - VDCC_L_bsu

Pfam Domains:
PF00625 - Guanylate kinase
PF12052 - Voltage gated calcium channel subunit beta domain 4Aa N terminal

SCOP Domains:
50044 - SH3-domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q02641
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0008331 high voltage-gated calcium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007268 chemical synaptic transmission
GO:0007528 neuromuscular junction development
GO:0034765 regulation of ion transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:1901385 regulation of voltage-gated calcium channel activity
GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
GO:1904646 cellular response to beta-amyloid

Cellular Component:
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0042383 sarcolemma


-  Descriptions from all associated GenBank mRNAs
  M92303 - Human voltage-dependent calcium channel beta-1 subunit mRNA, complete cds.
BC037311 - Homo sapiens calcium channel, voltage-dependent, beta 1 subunit, mRNA (cDNA clone MGC:41896 IMAGE:5262182), complete cds.
JD443213 - Sequence 424237 from Patent EP1572962.
JD165463 - Sequence 146487 from Patent EP1572962.
JD537653 - Sequence 518677 from Patent EP1572962.
JD136552 - Sequence 117576 from Patent EP1572962.
AB209176 - Homo sapiens mRNA for calcium channel, voltage-dependent, beta 1 subunit isoform 1 variant protein.
AK127283 - Homo sapiens cDNA FLJ45350 fis, clone BRHIP3011567, highly similar to Voltage-dependent L-type calcium channelsubunit beta-1.
AB054985 - Homo sapiens mRNA for voltage-dependent calcium channel beta-1b subunit, complete cds.
JD146760 - Sequence 127784 from Patent EP1572962.
JD416862 - Sequence 397886 from Patent EP1572962.
JD454630 - Sequence 435654 from Patent EP1572962.
JD383217 - Sequence 364241 from Patent EP1572962.
JD055740 - Sequence 36764 from Patent EP1572962.
JD132677 - Sequence 113701 from Patent EP1572962.
JD393416 - Sequence 374440 from Patent EP1572962.
JD205082 - Sequence 186106 from Patent EP1572962.
JD258967 - Sequence 239991 from Patent EP1572962.
JD281211 - Sequence 262235 from Patent EP1572962.
JD485239 - Sequence 466263 from Patent EP1572962.
JD234322 - Sequence 215346 from Patent EP1572962.
JD498381 - Sequence 479405 from Patent EP1572962.
JD055378 - Sequence 36402 from Patent EP1572962.
JD423682 - Sequence 404706 from Patent EP1572962.
JD201715 - Sequence 182739 from Patent EP1572962.
JD251604 - Sequence 232628 from Patent EP1572962.
JD355388 - Sequence 336412 from Patent EP1572962.
JD275186 - Sequence 256210 from Patent EP1572962.
JD473124 - Sequence 454148 from Patent EP1572962.
JD051021 - Sequence 32045 from Patent EP1572962.
JD290037 - Sequence 271061 from Patent EP1572962.
JD526018 - Sequence 507042 from Patent EP1572962.
JD237615 - Sequence 218639 from Patent EP1572962.
JD298339 - Sequence 279363 from Patent EP1572962.
JD232499 - Sequence 213523 from Patent EP1572962.
JD371511 - Sequence 352535 from Patent EP1572962.
JD233503 - Sequence 214527 from Patent EP1572962.
JD488702 - Sequence 469726 from Patent EP1572962.
JD073144 - Sequence 54168 from Patent EP1572962.
JD311061 - Sequence 292085 from Patent EP1572962.
JD297066 - Sequence 278090 from Patent EP1572962.
AK289729 - Homo sapiens cDNA FLJ77009 complete cds, highly similar to Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.
JD343164 - Sequence 324188 from Patent EP1572962.
JD532165 - Sequence 513189 from Patent EP1572962.
JD218136 - Sequence 199160 from Patent EP1572962.
AK297643 - Homo sapiens cDNA FLJ56299 complete cds, highly similar to Voltage-dependent L-type calcium channel subunit beta-1.
AK312385 - Homo sapiens cDNA, FLJ92715.
KJ901313 - Synthetic construct Homo sapiens clone ccsbBroadEn_10707 CACNB1 gene, encodes complete protein.
DQ891688 - Synthetic construct clone IMAGE:100004318; FLH179292.01X; RZPDo839E11130D calcium channel, voltage-dependent, beta 1 subunit (CACNB1) gene, encodes complete protein.
EU176608 - Synthetic construct Homo sapiens clone IMAGE:100011428; FLH179288.01L; RZPDo839E11129D calcium channel, voltage-dependent, beta 1 subunit (CACNB1) gene, encodes complete protein.
L06111 - Human L-type voltage-gated calcium channel B subunit mRNA for isoform b, complete cds.
L06112 - Human L-type voltage-gated calcium channel B subunit mRNA for isoform c, complete cds.
M76560 - Human neuronal DHP-sensitive, voltage-dependent, calcium channel beta-2 subunit mRNA, complete cds.
M92302 - Human voltage-dependent calcium channel beta-1 subunit mRNA, complete cds.
AK300666 - Homo sapiens cDNA FLJ52762 complete cds, highly similar to Homo sapiens calcium channel, voltage-dependent, beta 1 subunit, transcript variant 3, mRNA.
M92301 - Human voltage-dependent calcium channel beta-1 subunit, complete cds.
CU691480 - Synthetic construct Homo sapiens gateway clone IMAGE:100020711 5' read CACNB1 mRNA.
AY393857 - Homo sapiens voltage-gated calcium channel beta 1 subunit splice variant CavB1d (CACNB1) mRNA, complete cds, alternatively spliced.
JD408213 - Sequence 389237 from Patent EP1572962.
JD462898 - Sequence 443922 from Patent EP1572962.
JD445381 - Sequence 426405 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q02641 (Reactome details) participates in the following event(s):

R-HSA-525833 NCAM1 interacts with T- and L-type VDCC
R-HSA-5577213 LTCC heteropentamer (open) transports Ca2+ from extracellular region to cytosol
R-HSA-210420 Ca2+ influx through voltage gated Ca2+ channels
R-HSA-419037 NCAM1 interactions
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase
R-HSA-112308 Presynaptic depolarization and calcium channel opening
R-HSA-422475 Axon guidance
R-HSA-5576891 Cardiac conduction
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-1266738 Developmental Biology
R-HSA-397014 Muscle contraction
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K114, CACB1_HUMAN, CACNLB1, ENST00000394303.1, ENST00000394303.2, ENST00000394303.3, ENST00000394303.4, ENST00000394303.5, ENST00000394303.6, ENST00000394303.7, NM_000723, O15331, Q02639, Q02640, Q02641, Q8N3X9, Q9C085, Q9UD79, uc318wod.1, uc318wod.2
UCSC ID: ENST00000394303.8_11
RefSeq Accession: NM_000723.5
Protein: Q02641 (aka CACB1_HUMAN or CCB1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.