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CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 [ Homo sapiens (human) ]

Gene ID: 784, updated on 13-Mar-2020

Summary

Official Symbol
CACNB3provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit beta 3provided by HGNC
Primary source
HGNC:HGNC:1403
See related
Ensembl:ENSG00000167535 MIM:601958
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAB3; CACNLB3
Summary
This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
Expression
Ubiquitous expression in endometrium (RPKM 10.3), ovary (RPKM 7.3) and 21 other tissues See more
Orthologs

Genomic context

See CACNB3 in Genome Data Viewer
Location:
12q13.12
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (48814432..48828941)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49208215..49222726)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ADCY6 divergent transcript Neighboring gene chromosome 20 open reading frame 27 pseudogene Neighboring gene uncharacterized LOC101927241 Neighboring gene DEAD-box helicase 23 Neighboring gene uncharacterized LOC105369755 Neighboring gene Rho family GTPase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ58949

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
calcium ion transmembrane transport via high voltage-gated calcium channel ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
cellular response to oxygen-glucose deprivation IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of mechanical stimulus involved in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization TAS
Traceable Author Statement
more info
 
negative regulation of detection of mechanical stimulus involved in sensory perception of touch IEA
Inferred from Electronic Annotation
more info
 
negative regulation of voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein targeting to membrane IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane repolarization during action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
L-type voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
voltage-dependent L-type calcium channel subunit beta-3
Names
calcium channel, voltage-dependent, beta 3 subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030048.1 RefSeqGene

    Range
    5049..19510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000725.4NP_000716.2  voltage-dependent L-type calcium channel subunit beta-3 isoform 1

    See identical proteins and their annotated locations for NP_000716.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC117498, AK289709, AL534844
    Consensus CDS
    CCDS8769.1
    UniProtKB/Swiss-Prot
    P54284
    Related
    ENSP00000301050.2, ENST00000301050.7
    Conserved Domains (3) summary
    cd12042
    Location:58125
    SH3_CACNB3; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta3
    pfam12052
    Location:1658
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl27059
    Location:176356
    Guanylate_kin; Guanylate kinase
  2. NM_001206915.2NP_001193844.1  voltage-dependent L-type calcium channel subunit beta-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC117498, CD013906
    Consensus CDS
    CCDS55823.1
    UniProtKB/Swiss-Prot
    P54284
    Related
    ENSP00000448304.1, ENST00000547230.5
    Conserved Domains (3) summary
    cd11863
    Location:2182
    SH3_CACNB; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta
    pfam00625
    Location:135315
    Guanylate_kin; Guanylate kinase
    cl17190
    Location:145316
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  3. NM_001206916.2NP_001193845.1  voltage-dependent L-type calcium channel subunit beta-3 isoform 3

    See identical proteins and their annotated locations for NP_001193845.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC117498, AK316323, DB277524
    Consensus CDS
    CCDS55822.1
    UniProtKB/Swiss-Prot
    P54284
    Related
    ENSP00000444160.2, ENST00000536187.6
    Conserved Domains (4) summary
    cd12042
    Location:57124
    SH3_CACNB3; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta3
    pfam00625
    Location:175355
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1557
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:185356
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  4. NM_001206917.2NP_001193846.1  voltage-dependent L-type calcium channel subunit beta-3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC117498, AK304537
    Consensus CDS
    CCDS55821.1
    UniProtKB/Swiss-Prot
    P54284
    Related
    ENSP00000445495.1, ENST00000540990.5
    Conserved Domains (4) summary
    cd12042
    Location:45112
    SH3_CACNB3; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta3
    pfam00625
    Location:163343
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:345
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:173344
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    48814432..48828941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449181.1XP_024304949.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

    Conserved Domains (1) summary
    cl27059
    Location:1180
    Guanylate_kin; Guanylate kinase
  2. XM_017019957.1XP_016875446.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

    Conserved Domains (1) summary
    cl27059
    Location:1180
    Guanylate_kin; Guanylate kinase
  3. XM_011538727.3XP_011537029.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

    See identical proteins and their annotated locations for XP_011537029.1

    Conserved Domains (1) summary
    cl27059
    Location:1180
    Guanylate_kin; Guanylate kinase
  4. XM_024449180.1XP_024304948.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

    Conserved Domains (1) summary
    cl27059
    Location:1180
    Guanylate_kin; Guanylate kinase
  5. XM_011538728.2XP_011537030.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

    See identical proteins and their annotated locations for XP_011537030.1

    Conserved Domains (1) summary
    cl27059
    Location:1180
    Guanylate_kin; Guanylate kinase

RNA

  1. XR_001748868.1 RNA Sequence

  2. XR_001748867.1 RNA Sequence

    Related
    ENST00000551544.5
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