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

Homo sapiens

Also known as CAB1; CCHLB1; CACNLB1

Gene ID: 782 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Guanylate_kin

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01805	CACNB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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