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

    Gene ID: 774, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:1389
    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
    NEW
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    Genomic context

    See CACNA1B in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137877782..138124619)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (150142926..150389904)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140772234..141019071)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene euchromatic histone lysine methyltransferase 1 Neighboring gene forkhead box H1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140682311-140682830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140682831-140683350 Neighboring gene uncharacterized LOC651337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29371 Neighboring gene 9q34.3 EHMT1 distal recombination region Neighboring gene uncharacterized LOC100133077 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140767993-140769192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140772427-140773342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140775611-140776112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140780067-140780657 Neighboring gene microRNA 602 Neighboring gene uncharacterized LOC124902320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140786514-140787014 Neighboring gene CACNA1B antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140884423-140885622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140901003-140901639 Neighboring gene 9q34.3 CACNA1B recombination region Neighboring gene uncharacterized LOC101928786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140968134-140969031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:140991711-140992212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140995762-140996262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140999073-140999830 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:141038812-141038998 Neighboring gene IL9R 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

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in neuronal cell body  
    located_in plasma membrane  
    located_in synapse  
    part_of voltage-gated calcium channel complex  

    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)

    NEW Try the new Transcript table

    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_000718.4 → NP_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
      B1AQK5, Q00975
      UniProtKB/TrEMBL
      B1AQK6
      Related
      ENSP00000360423.1, ENST00000371372.6
      Conserved Domains (5) summary
      PHA03307
      Location:1942 → 2338
      PHA03307; transcriptional regulator ICP4; Provisional
      PRK12678
      Location:831 → 988
      PRK12678; transcription termination factor Rho; Provisional
      pfam00520
      Location:1470 → 1719
      Ion_trans; Ion transport protein
      pfam08763
      Location:1793 → 1867
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:1728 → 1781
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. NM_001243812.2 → NP_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/TrEMBL
      B1AQK6
      Related
      ENSP00000277551.2, ENST00000277551.6
      Conserved Domains (4) summary
      pfam00520
      Location:1488 → 1719
      Ion_trans; Ion transport protein
      pfam08763
      Location:1793 → 1867
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam12300
      Location:822 → 929
      DUF3628; Protein of unknown function (DUF3628)
      pfam16905
      Location:1727 → 1791
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      150142926..150389904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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