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

    Gene ID: 779, updated on 3-Jul-2016
    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 HPRD:00248; MIM:114208; Vega:OTTHUMG00000035784
    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; HOKPP; TTPP1; 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]
    Orthologs
    Location:
    1q32
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (201039509..201112566, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201008635..201081694, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 3, pseudogene Neighboring gene RNA, U6 small nuclear 704, pseudogene Neighboring gene kinesin family member 21B Neighboring gene uncharacterized LOC101929305 Neighboring gene achaete-scute family bHLH transcription factor 5 Neighboring gene transmembrane protein 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies four loci associated with eruption of permanent teeth.
    NHGRI GWA Catalog
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    high voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac conduction TAS
    Traceable Author Statement
    more info
     
    membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1S
    Names
    calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis)
    calcium channel, voltage-dependent, L type, alpha 1S subunit
    dihydropyridine receptor
    dihydropyridine receptor alpha 1 subunit
    dihydropyridine-sensitive L-type calcium channel alpha-1 subunit
    voltage-gated calcium channel subunit alpha Cav1.1

    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_009816.1 RefSeqGene

      Range
      5001..78055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000069.2NP_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
      Q13698
      Related
      ENSP00000355192, OTTHUMP00000033931, ENST00000362061, OTTHUMT00000087049
      Conserved Domains (2) summary
      pfam08763
      Location:15161546
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:11521380
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      201039509..201112566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245478.3XP_005245535.1  

      UniProtKB/TrEMBL
      B1ALM3
      Related
      ENSP00000356307, OTTHUMP00000033932, ENST00000367338, OTTHUMT00000087050
      Conserved Domains (2) summary
      pfam08763
      Location:14971527
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:11521361
      Ion_trans; Ion transport protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      202431280..202504354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)