• Gene id: 782

Gene Summary

• Gene Symbol: CACNB1   Gene   UCSC   Ensembl
• Aliases: CAB1, CACNLB1, CCHLB1
• Gene name: calcium voltage-gated channel auxiliary subunit beta 1
• Alternate names: voltage-dependent L-type calcium channel subunit beta-1, calcium channel voltage-dependent subunit beta 1, calcium channel, L type, beta 1 polypeptide, calcium channel, voltage-dependent, beta 1 subunit, dihydropyridine-sensitive L-type, calcium channel beta-,
• Gene location: 17q12 (39197668: 39173452)     Exons: 19     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 606570

Protein Summary

• Protein general information: Q02641  
  • Name: Voltage dependent L type calcium channel subunit beta 1 (CAB1) (Calcium channel voltage dependent subunit beta 1)
  • Length: 598  
  • Mass: 65714
  • Tissue specificity: Detected in heart ventricle (at protein level) (PubMed
• Sequence:

  MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGSTSSDTTSNSFVRQGSAESYTSRPSDSDVSLE
  EDREALRKEAERQALAQLEKAKTKPVAFAVRTNVGYNPSPGDEVPVQGVAITFEPKDFLHIKEKYNNDWWIGRLV
  KEGCEVGFIPSPVKLDSLRLLQEQKLRQNRLGSSKSGDNSSSSLGDVVTGTRRPTPPASAKQKQKSTEHVPPYDV
  VPSMRPIILVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKHIIIERSNTRSSLA
  EVQSEIERIFELARTLQLVALDADTINHPAQLSKTSLAPIIVYIKITSPKVLQRLIKSRGKSQSKHLNVQIAASE
  KLAQCPPEMFDIILDENQLEDACEHLAEYLEAYWKATHPPSSTPPNPLLNRTMATAALAASPAPVSNLQGPYLAS
  GDQPLERATGEHASMHEYPGELGQPPGLYPSSHPPGRAGTLRALSRQDTFDADTPGSRNSAYTELGDSCVDMETD
  PSEGPGLGDPAGGGTPPARQGSWEDEEEDYEEELTDNRNRGRNKARYCAEGGGPVLGRNKNELEGWGRGVYIR

• Structural information:
  • Protein Domains: (100..16-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR008145  IPR027417  IPR036028  IPR001452  IPR005443   IPR000584  
  • Prosite: PS50002
  • STRING: ENSP00000377840
• Other Databases: GeneCards:  CACNB1  Malacards:  CACNB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IGI	molecular function
GO:1904646	cellular response to amyloid-beta	IGI	biological process
GO:1902514	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0005891	voltage-gated calcium channel complex	IBA	cellular component
GO:0008331	high voltage-gated calcium channel activity	IBA	molecular function
GO:1901385	regulation of voltage-gated calcium channel activity	IBA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	TAS	molecular function
GO:0005891	voltage-gated calcium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04921	Oxytocin signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881