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CACNA1B calcium voltage-gated channel subunit alpha1 B [ Homo sapiens (human) ]

Gene ID: 774, updated on 18-Aug-2020

Summary

Official Symbol
CACNA1Bprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Bprovided by HGNC
Primary source
HGNC:HGNC:1389
See related
Ensembl:ENSG00000148408 MIM:601012
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
BIII; CACNN; DYT23; Cav2.2; NEDNEH; CACNL1A5
Summary
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression
Biased expression in brain (RPKM 4.9), testis (RPKM 2.2) and 1 other tissue See more
Orthologs

Genomic context

See CACNA1B in Genome Data Viewer
Location:
9q34.3
Exon count:
47
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (137877782..138124619)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140772241..141019076)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene 9q34.3 EHMT1 distal recombination region Neighboring gene microRNA 602 Neighboring gene uncharacterized LOC100133077 Neighboring gene uncharacterized LOC105376331 Neighboring gene 9q34.3 CACNA1B recombination region Neighboring gene uncharacterized LOC101928786 Neighboring gene interleukin 9 receptor pseudogene 1 Neighboring gene tubulin beta pseudogene 5

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
amyloid-beta binding IC
Inferred by Curator
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
high voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization TAS
Traceable Author Statement
more info
 
modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to amyloid-beta IDA
Inferred from Direct Assay
more info
PubMed 
response to pain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-dependent N-type calcium channel subunit alpha-1B
Names
Cav2.2 voltage-gated Ca2+ channel
brain calcium channel III
calcium channel alpha12.2 subunit
calcium channel, L type, alpha-1 polypeptide
calcium channel, voltage-dependent, L type, alpha 1B subunit
calcium channel, voltage-dependent, N type, alpha 1B subunit
voltage-gated calcium channel alpha subunit Cav2.2
voltage-gated calcium channel subunit alpha Cav2.2

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_042271.1 RefSeqGene

    Range
    4994..251831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000718.4NP_000709.1  voltage-dependent N-type calcium channel subunit alpha-1B isoform 1

    See identical proteins and their annotated locations for NP_000709.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL591424, AL772363, BC033060, M94172
    Consensus CDS
    CCDS59522.1
    UniProtKB/Swiss-Prot
    Q00975
    Related
    ENSP00000360423.1, ENST00000371372.6
    Conserved Domains (4) summary
    pfam00520
    Location:14881719
    Ion_trans; Ion transport protein
    pfam08763
    Location:17931867
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam12300
    Location:822929
    DUF3628; Protein of unknown function (DUF3628)
    pfam16905
    Location:17271791
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001243812.2NP_001230741.1  voltage-dependent N-type calcium channel subunit alpha-1B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL591424, AL772363, BC033060, M94173
    Consensus CDS
    CCDS59523.1
    UniProtKB/Swiss-Prot
    Q00975
    Related
    ENSP00000277551.2, ENST00000277551.6
    Conserved Domains (4) summary
    pfam00520
    Location:14881719
    Ion_trans; Ion transport protein
    pfam08763
    Location:17931867
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam12300
    Location:822929
    DUF3628; Protein of unknown function (DUF3628)
    pfam16905
    Location:17271791
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    137877782..138124619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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