CACNB1

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.[5][6][7]

CACNB1
Identifiers
AliasesCACNB1, CAB1, CACNLB1, CCHLB1, calcium voltage-gated channel auxiliary subunit beta 1
External IDsOMIM: 114207 MGI: 102522 HomoloGene: 20186 GeneCards: CACNB1
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q12Start39,173,453 bp[1]
End39,197,703 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

782

12295

Ensembl

ENSG00000067191

ENSMUSG00000020882

UniProt

Q02641

Q8R3Z5

RefSeq (mRNA)

NM_000723
NM_199247
NM_199248

RefSeq (protein)

NP_000714
NP_954855
NP_954856

Location (UCSC)Chr 17: 39.17 – 39.2 MbChr 11: 98 – 98.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

See also

  • Voltage-dependent calcium channel

References

  1. GRCh38: Ensembl release 89: ENSG00000067191 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000020882 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Gregg RG, Powers PA, Hogan K (Mar 1993). "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". Genomics. 15 (1): 185–7. doi:10.1006/geno.1993.1029. PMID 8381767.
  6. Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD, et al. (Oct 1993). "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". Hum Mol Genet. 2 (7): 863–8. doi:10.1093/hmg/2.7.863. PMID 8395940.
  7. "Entrez Gene: CACNB1 calcium channel, voltage-dependent, beta 1 subunit".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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