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    CACNA1S calcium voltage-gated channel subunit alpha1 S [ Homo sapiens (human) ]

    Gene ID: 779, updated on 3-Apr-2024

    Summary

    Official Symbol
    CACNA1Sprovided by HGNC
    Official Full Name
    calcium voltage-gated channel subunit alpha1 Sprovided by HGNC
    Primary source
    HGNC:HGNC:1397
    See related
    Ensembl:ENSG00000081248 MIM:114208; AllianceGenome:HGNC:1397
    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
    MHS5; DHPRM; HOKPP; TTPP1; CMYP18; Cav1.1; HOKPP1; hypoPP; CCHL1A3; CACNL1A3
    Summary
    This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 1.7), prostate (RPKM 1.6) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1q32.1
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201039512..201112426, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200296459..200369410, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201008640..201081554, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2304 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:200945792-200946991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2305 Neighboring gene kinesin family member 21B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200969230-200969730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200985675-200986222 Neighboring gene Sharpr-MPRA regulatory region 10908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200991037-200991644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1685 Neighboring gene uncharacterized LOC101929305 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:200993410-200993567 Neighboring gene Sharpr-MPRA regulatory region 14143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201021057-201021557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201022145-201023102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201028065-201028818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201031613-201032386 Neighboring gene uncharacterized LOC124904481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201070239-201070740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201070741-201071240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201072987-201073503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201084381-201084901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201095506-201096496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201096497-201097487 Neighboring gene achaete-scute family bHLH transcription factor 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201103675-201103881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1687 Neighboring gene transmembrane protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2310

    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?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in CACNA1S that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-01-18)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-01-18)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies four loci associated with eruption of permanent teeth.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables high voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables high voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular function activator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small molecule binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoplasmic reticulum organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extraocular skeletal muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in striated muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of L-type voltage-gated calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of L-type voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in T-tubule IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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 alpha-1S
    Names
    calcium channel, voltage-dependent, L type, alpha 1S subunit
    dihydropyridine receptor alpha 1 subunit
    dihydropyridine-sensitive L-type calcium channel alpha-1 subunit
    voltage-gated calcium channel subunit alpha Cav1.1

    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_009816.2 RefSeqGene

      Range
      5141..78055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000069.3NP_000060.2  voltage-dependent L-type calcium channel subunit alpha-1S

      See identical proteins and their annotated locations for NP_000060.2

      Status: REVIEWED

      Source sequence(s)
      AL139159, AL358473
      Consensus CDS
      CCDS1407.1
      UniProtKB/Swiss-Prot
      A4IF51, B1ALM2, Q12896, Q13698, Q13934
      UniProtKB/TrEMBL
      A0A7P0T8M7
      Related
      ENSP00000355192.3, ENST00000362061.4
      Conserved Domains (5) summary
      pfam00520
      Location:11351392
      Ion_trans; Ion transport protein
      pfam05104
      Location:671777
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam08763
      Location:14651536
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16921833
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:14001463
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201039512..201112426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245478.4XP_005245535.1  voltage-dependent L-type calcium channel subunit alpha-1S isoform X1

      UniProtKB/TrEMBL
      A0A7P0T8M7, B1ALM3
      Related
      ENSP00000356307.3, ENST00000367338.7
      Conserved Domains (5) summary
      pfam00520
      Location:11351373
      Ion_trans; Ion transport protein
      pfam05104
      Location:671777
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam08763
      Location:14461517
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16885
      Location:16731814
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
      pfam16905
      Location:13811444
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200296459..200369410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338645.1XP_054194620.1  voltage-dependent L-type calcium channel subunit alpha-1S isoform X1