CACNB1 - calcium voltage-gated channel auxiliary subunit beta 1 Gene

Also Known as CAB1; CCHLB1; CACNLB1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 782

About CACNB1

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,173,453-39,197,669 (from NCBI)

This gene has 11 transcripts (splice variants), 108 orthologues and 3 paralogues. Broad expression in brain (RPKM 12.9), skin (RPKM 4.4) and 17 other tissues.

Summary

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]

CACNB1 Products (3)

mRNA Protein Name
NM_000723.5 NP_000714.3 voltage-dependent L-type calcium channel subunit beta-1 isoform 1
NM_199247.3 NP_954855.1 voltage-dependent L-type calcium channel subunit beta-1 isoform 2
NM_199248.3 NP_954856.1 voltage-dependent L-type calcium channel subunit beta-1 isoform 3

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables calcium channel regulator activity IGI
IGI: Inferred from genetic interaction
21883149 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17052716 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to amyloid-beta IGI
IGI: Inferred from genetic interaction
21883149 GOA
involved in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IGI
IGI: Inferred from genetic interaction
21883149 GOA
Cellular Component GO Annotation Evidence References Source
part of voltage-gated calcium channel complex IGI
IGI: Inferred from genetic interaction
21883149 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNB1 Protein Structure

VGCC_beta4Aa_N

VGCC_beta4Aa_N: Voltage gated calcium channel subunit beta domain 4Aa N terminal (58 - 99)

Guanylate_kin

Guanylate_kin: Guanylate kinase (228 - 408)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 598 a.a.
Protein Preferred Names Protein Names

voltage-dependent L-type calcium channel subunit beta-1

  • calcium channel voltage-dependent subunit beta 1

Related Diseases

Diseases Alias
Malignant Hyperthermia

  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever
Myopathy, Congenital, Bailey-Bloch

  • Native American Myopathy

  • Nam

  • MYPBB

  • Myopathy, Congenital, Baily-Bloch

  • Anti-Hmg-Coa Myopathy

  • Anti-Srp Myopathy

  • Autoimmune Necrotizing Myositis

  • Imnm

  • Immune Myopathy With Myocyte Necrosis

  • Immune-Mediated Necrotizing Myopathy

  • Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia

  • Necrotizing Autoimmune Myopathy

  • Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome

  • Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
Alzheimer Disease 8

  • Ad8

  • Alzheimer'S Disease 8

  • Alzheimer Disease, Familial, 8

  • Alzheimer Disease, Familial 8

  • Alzheimer'S Disease 8, Late Onset
Arrhythmogenic Right Ventricular Cardiomyopathy

  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01805 CACNB1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus CACNB1 VGNC VGNC:60306
Canis familiaris CACNB1 VGNC VGNC:38644
Mus musculus CACNB1 MGD MGI:102522
Rattus norvegicus CACNB1 RGD RGD:68382
Macaca mulatta CACNB1 VGNC VGNC:70509
Bos taurus CACNB1 VGNC VGNC:26683
Others CACNB1 NCBI