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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNA1S Gene

protein-coding   GIFtS: 71
GCID: GC01M201008

calcium channel, voltage-dependent, L type, alpha 1S subunit


(Previous symbols: HOKPP, MHS5, CACNL1A3)
 Explore 21 diseases affiliated with
CACNA1S via
MalaCards
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 Human Malady Compendium 
Biological research products
for CACNA1S    

Aliases
for CACNA1S gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Calcium Channel, Voltage-Dependent, L Type, Alpha 1S Subunit1 2     TTPP12 5
CACNL1A31 2 3 5     Calcium Channel, L Type, Alpha 1 Polypeptide, Isoform 3 (Skeletal Muscle,
Hypokalemic Periodic Paralysis)2
Cav1.11 2     Dihydropyridine Receptor2
HOKPP1 2     Dihydropyridine-Sensitive L-Type Calcium Channel Alpha-1 Subunit2
MHS51 2     Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1S2
HypoPP1     CACH13
Voltage-Gated Calcium Channel Subunit Alpha Cav1.12 3     CACN13
CCHL1A32 5     Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 3, Skeletal Muscle3
HOKPP12 5     

External Ids:    HGNC: 13971   Entrez Gene: 7792   Ensembl: ENSG000000812487   OMIM: 1142085   UniProtKB: Q136983   

Export aliases for CACNA1S gene to outside databases

Previous GC identifers: GC01M198738 GC01M196467 GC01M197475 GC01M198296 GC01M197740 GC01M199275 GC01M172185


Summaries
for CACNA1S gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CACNA1S:
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)

UniProtKB/Swiss-Prot: CAC1S_HUMAN, Q13698
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also
involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter
release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type
calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are
blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA).
They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium
channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle

summary for CACNA1S:
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1S (Cav1.1)


Genomic Views
for CACNA1S gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA1S gene promoter:
         HOXA9   HOXA9B   GR   AML1a   C/EBPalpha   E47   Meis-1b   GR-alpha   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CACNA1S promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA1S

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1S


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

CACNA1S Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1S gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M201008:  view genomic region     (about GC identifiers)

Start:
 201,008,640 bp from pter      End:
 201,081,694 bp from pter
Size:
 73,055 bases      Orientation:
 minus strand

Proteins
for CACNA1S gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CAC1S_HUMAN, Q13698 (See protein sequence)
Recommended Name: Voltage-dependent L-type calcium channel subunit alpha-1S  
Size: 1873 amino acids; 212350 Da
Subunit: Multisubunit complex consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel
activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is
sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta
linked by a disulfide bridge regulate the channel activity. An additional gamma subunit is present only in skeletal
muscle L-type channel. Interacts with DYSF and JSRP1. Interacts with RYR1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for CACNA1S:
2VAY (3D)    
Secondary accessions: A4IF51 B1ALM2 Q12896 Q13934

Explore the universe of human proteins at neXtProt for CACNA1S: NX_Q13698

Post-translational modifications:

  • Phosphorylation by PKA activates the calcium channel (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13698

    • CACNA1S Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000060.2  
    ENSEMBL proteins: 
     ENSP00000356307   ENSP00000355192  
    Reactome Protein details: Q13698
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11206130
    GO:0005886plasma membrane IDA11206130
    GO:0005891voltage-gated calcium channel complex IDA9852570
    GO:0016529sarcoplasmic reticulum IEA--
    GO:0030315T-tubule IDA17204937


    CACNA1S for ontologies           About GeneDecksing



    CACNA1S Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for CACNA1S gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CACNA1S for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR005446 VDCC_L_a1su
     IPR002077 VDCCAlpha1
     IPR005450 VDCC_L_a1ssu
     IPR014873 VDCC_a1su_IQ
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q13698

    ProtoNet protein and cluster: Q13698

    3 Blocks protein families:
    IPB002077 Calcium channel signature
    IPB005446 L-type voltage-dependent calcium channel alpha-1 subunit signature
    IPB005450 Voltage-dependent L-type calcium channel alpha-1S subunit signature


    UniProtKB/Swiss-Prot: CAC1S_HUMAN, Q13698
    Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one
    positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized
    by a series of positively charged amino acids at every third position
    Domain: The loop between repeats II and III interacts with the ryanodine receptor, and is therefore important for
    calcium release from the endoplasmic reticulum necessary for muscle contraction
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily


    Function
    for CACNA1S gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CAC1S_HUMAN, Q13698
    Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also
    involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter
    release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type
    calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are
    blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA).
    They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium
    channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle

         Genatlas biochemistry entry for CACNA1S:
    transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,alpha 1S subunit,expressed in
    skeletal muscle,dihydropyridine (DHP) sensitive,isoform 3,involved in excitation-contraction coupling,ortholog of the
    mdg (muscular dysgenesis murine gene)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: CACNA1S 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA1S (see all 7)
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1S (see all 4)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IDA9852570
    GO:0008331high voltage-gated calcium channel activity IDA9852570
    GO:0046872metal ion binding IEA--


    CACNA1S for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CACNA1S:
     Synthetic lethal with c-Myc af 

    Animal Models:
         12 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cacna1s):
     adipose tissue  behavior/neurological  craniofacial  digestive/alimentary  growth/size 
     homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging  muscle 
     nervous system  skeleton 

    CACNA1S for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CACNA1S gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/35 super-pathways (see all 35) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    		DREAM Repression and Dynorphin Expression1.00
    		Caspase Cascade0.24
    		BMP Pathway0.44
    		Calpain Protease Regulates Cellular Mechanics0.22
    		nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    		PKC-Theta Pathway1.00
    		Fc-EpsilonRI Pathway0.42
    		TCR Signaling0.68
    		PDGF Pathway0.35
    		ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    		Sweet Taste Signaling1.00
    		Cellular Effects of Sildenafil0.46
    		Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		PKA Signaling0.56
    		cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		IGF1R Signaling0.37
    		Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for CACNA1S
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/40 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1S (see all 40)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1S
        Transcription CREB pathway

    3 BioSystems Pathways for CACNA1S 
        Calcium Regulation in the Cardiac Cell
    Alzheimers Disease
    Arrhythmogenic right ventricular cardiomyopathy

    4        Reactome Pathways for CACNA1S
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance

    2 PharmGKB Pathways for CACNA1S
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    5/10         Kegg Pathways  (Kegg details for CACNA1S) (see all 10):
        MAPK signaling pathway
    Calcium signaling pathway
    Cardiac muscle contraction
    Vascular smooth muscle contraction
    Cholinergic synapse


    CACNA1S for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNA1S

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/124 Interacting proteins for CACNA1S (Q136982, 3 ENSP000003551924) via UniProtKB, MINT, STRING, and/or I2D (see all 124)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 I2D: score=1 STRING: ENSP00000238081
    RYR1P218173, ENSP000003526084I2D: score=1 STRING: ENSP00000352608
    RIMS2Q9UQ263, ENSP000003862284I2D: score=1 STRING: ENSP00000386228
    SRIP306263, ENSP000002657294I2D: score=2 STRING: ENSP00000265729
    YWHAZP631042, ENSP000003095034MINT-7899812 STRING: ENSP00000309503
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0002074extraocular skeletal muscle development IEA--
    GO:0006816calcium ion transport IDA9852570
    GO:0006936muscle contraction IMP17418573
    GO:0006941striated muscle contraction IEA--


    CACNA1S for ontologies           About GeneDecksing



    Drugs & Compounds
    for CACNA1S gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA1S for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CACNA1S available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FPL 64176Potent activator of Ca2+ channels (L-type)[120934-96-5]
    NimodipineCa2+ channel blocker (L-type)[66085-59-4]
    (S)-(-)-Bay K 8644Ca2+-channel activator (L-type)[98625-26-4]
    (±)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    IsradipineCa2+ channel blocker (L-type)[75695-93-1]

    2 HMDB Compounds for CACNA1S    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    10/12 DrugBank Compounds for CACNA1S (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NimodipineNimodipino [INN-Spanish] (see all 2)66085-59-4targetinhibitor20335610 17705883 20334460 19844625 16675661 20661350
    Mibefradil-- 116644-53-2targetinhibitor10372226 10665814 16899990
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221
    Magnesium SulfateBitter salt (see all 6)7487-88-9target--17139284 17016423
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor16675661
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor16675661
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor16675661
    Nifedipine-- 21829-25-4targetinhibitor16675661
    Nilvadipine-- 75530-68-6targetinhibitor16675661
    NisoldipineNisoldipin (see all 3)63675-72-9targetinhibitor16675661

    6 Novoseek chemical compound relationships for CACNA1S gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydropyridine 78.1 11 7847370 (2), 8118099 (1), 9132138 (1), 9436445 (1) (see all 9)
    ryanodine 63.4 1 19191329 (1)
    calcium 61.5 37 20431982 (3), 8188298 (2), 17223993 (2), 8838325 (2) (see all 31)
    sodium 40.4 3 10599760 (1), 19708131 (1), 17185904 (1)
    histidine 38.1 2 8845715 (1), 15185439 (1)
    arginine 25.6 2 10599760 (1), 15185439 (1)

    Search CenterWatch for drugs/clinical trials and news about CACNA1S / CAC1S 

    Transcripts
    for CACNA1S gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CACNA1S gene: 
    NM_000069.2  

    Unigene Cluster for CACNA1S:

    Calcium channel, voltage-dependent, L type, alpha 1S subunit
    Hs.1294  [show with all ESTs]
    Unigene Representative Sequence: NM_000069
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367338 ENST00000362061(uc001gvv.3)

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA1S (see all 7)
    OriGene shRNA RFP: CACNA1S
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CACNA1S
    Clone
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    Primer
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    Additional cDNA sequence: 

    BC133671.1 L33798.1 U09784.1 U14413.1 U18986.1 

    1 DOTS entry:

    DT.408105 

    24/28 AceView cDNA sequences (see all 28):

    AW139004 U18986 BX104252 U14413 AJ572129 U09784 AJ346015 L33798 
    NM_000069 F27669 CF552495 BV168944 AI740911 F15900 AI417964 F32453 
    BX500307 AI391509 AJ572253 BG986686 F20511 AI073829 AA196212 F16173 

    GeneLoc Exon Structure


    Expression
    for CACNA1S gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNA1S expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGGATGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CACNA1S expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CACNA1S Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA1S

    SOURCE GeneReport for Unigene cluster: Hs.1294

    UniProtKB/Swiss-Prot: CAC1S_HUMAN, Q13698
    Tissue specificity: Skeletal muscle specific

        SABiosciences Custom PCR Arrays for CACNA1S
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    In Situ
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    Orthologs
    for CACNA1S gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CACNA1S gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CACNA1S1 calcium channel, voltage-dependent, L type, alpha 1S more 78.08(n)
    81.27(a)    		   395985  XM_419259.3  XP_419259.3 
    lizard
    (Anolis carolinensis)    		 Reptilia CACNA1S6
    		 --
    		 77(a)
    		 1 ↔ 1
    		 4(124469024-124551556)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.110942 Xenopus laevis skeletal muscle calcium channel alpha more 78.12(n)    AF421880.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cacna1sa1 calcium channel, voltage-dependent, L type, alpha 1S more 72.02(n)
    74.76(a)    		   570683  NM_001146150.1  NP_001139622.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Ca-alpha1D3 epithelial fluid transport voltage-gated
    calcium more    		 58(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea egl-193 Expression: neurons, preanal ganglion, ring
    neurons, more    		 61(a)
    (best of 2)    		   IV(7405770-7418097)   --


    ENSEMBL Gene Tree for CACNA1S (if available)
    TreeFam Gene Tree for CACNA1S (if available) 

    Paralogs
    for CACNA1S gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1S gene
    CACNA1A2  SCN5A2  SCN9A2  CACNA1D2  CACNA1I2  SCN7A2  CACNA1F2  SCN8A2  
    CACNA1G2  SCN10A2  SCN3A2  CACNA1E2  SCN2A2  CACNA1C2  CACNA1H2  SCN11A2  
    SCN4A2  SCN1A2  CACNA1B2  
    10 SIMAP similar genes for CACNA1S using alignment to 2 protein entries:     CAC1S_HUMAN (see all proteins):
    CACNA1D    CACNA1C    CACNA1F    CACNA1H    SCN5A    SCN3A
    CACNA1B    SCN4A    CACNA1A    CACNA1E

    CACNA1S for paralogs           About GeneDecksing



    Genomic Variants
    for CACNA1S gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1664 NCBI SNPs in CACNA1S are shown (see all 1664)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803387771,2
    		Cpathogenic181996802(-) GCTCCA/GCTGCA 2 H R mis10--------
    rs803387791,2
    		Cpathogenic182008390(-) CTGAGG/TGTGCT 2 R S mis10--------
    rs803387821,2
    		C,pathogenic182013857(-) CACAGA/C/TGCCAA 3 S R C mis10--------
    rs18005591,2
    		Cpathogenic182013858(-) ACAGCG/ACCAAT 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs289300691,2
    		Cpathogenic182021137(-) TGTTCC/GGTGTC 2 R G mis1 ese32Minor allele frequency- G:0.00NA 4
    rs289300681,2
    		Cpathogenic182021138(-) GTTCCG/ATGTCA 2 /H /R mis1 ese32Minor allele frequency- A:0.00NA 4
    rs120494931,2
    		--172174877(+) TGGCAA/CGCAGG 1 -- ds50010--------
    rs2001266701,2
    		C--172175493(-) AGTGCA/GGNNNN 1 -- ut310--------
    rs10423791,2
    		H--172175758(-) CCAGAG/CGGCAT 2 /D /E mis1 ese36Minor allele frequency- C:0.28MN NS EA NA 602
    rs1153079031,2
    		C,F,--172176828(+) GTGTGC/TACATT 1 -- int11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for CACNA1S (201008640 - 201081694 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CACNA1S
         1 CNV: 48225
    Human Gene Mutation Database (HGMD): CACNA1S

    Locus Specific Mutation Databases (LSDB): CACNA1S

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CACNA1S
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA1S

    Disorders / Diseases
    for CACNA1S gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CACNA1S for disorders           About GeneDecksing

    OMIM gene information: 114208   
    OMIM disorders: 170400  601887  188580  
    UniProtKB/Swiss-Prot: CAC1S_HUMAN, Q13698
  • Defects in CACNA1S are the cause of periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]; also
    • designated HYPOPP. HOKPP1 is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness
    associated with falls of serum potassium levels
  • Genetic variations in CACNA1S are the cause of susceptibility to malignant hyperthermia 5 (MHS5) [MIM:601887];
    • an autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used
    inhalational anesthetics and depolarizing muscle relaxants
  • Defects in CACNA1S are the cause of susceptibility to thyrotoxic periodic paralysis type 1 (TTPP1)
    • [MIM:188580]. A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic
    state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism
    is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular
    weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by
    ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic
    paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves
    disease

    20/21 diseases for CACNA1S (see all 21):    About MalaCards
    hypokalemic periodic paralysis    thyrotoxic periodic paralysis    paralysis    malignant hyperthermia susceptibility
    malignant hyperthermia    hypokalemic periodic paralysis type 1    hyperkalemic periodic paralysis    malignant hyperthermia susceptibility type 5
    periodic paralyses    central core myopathy    myasthenia gravis    thomsen disease
    hypokalemia    retinitis pigmentosa    myasthenia    hyperuricemia
    graves' disease    myopathy    genetic disease    retinitis

    3 diseases from the University of Copenhagen DISEASES database for CACNA1S:
    Malignant hyperthermia     Myopathy     Hypokalemia

    5 Novoseek disease relationships for CACNA1S gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypokalemic periodic paralysis 97.5 21 19822448 (2), 9436445 (2), 19118277 (2), 10599760 (2) (see all 16)
    periodic paralysis 92.1 6 17223993 (2), 16767662 (2), 15185439 (1), 18835861 (1)
    central core disease 79 1 11216663 (1)
    hypokalemia 56.2 1 15185439 (1)
    paralysis 52.4 2 20080402 (1)

    GeneTests: CACNA1S
    Hypokalemic Periodic Paralysis
    Malignant Hyperthermia Susceptibility

    Genetic Association Database (GAD): CACNA1S
    Human Genome Epidemiology (HuGE) Navigator: CACNA1S (6 documents)

    Export disorders for CACNA1S gene to outside databases

    Publications
    for CACNA1S gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACNA1S gene, integrated from 9 sources (see all 108):
    (articles sorted by number of sources associating them with CACNA1S)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the human gene for the alpha-1 subunit of the skeletal muscle DHP-sensitive calcium channel (CACNL1A3) to chromosome 1q31- q32. (PubMed id 7916735)1, 2, 3, 9 Gregg R.G.... Powers P.A. (1993)
    2. Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. (PubMed id 15711422)1, 4, 9 Lin S.H....Kao M.C. (2005)
    3. The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). (PubMed id 8838325)1, 2, 9 Hogan K.... Powers P.A. (1996)
    4. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PubMed id 19118277)1, 2, 9 Matthews E....Hanna M.G. (2009)
    5. Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). (PubMed id 7713519)1, 2, 9 Hogan K.... Gregg R.G. (1994)
    6. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. (PubMed id 9199552)1, 2, 9 Monnier N.... Lunardi J. (1997)
    7. Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. (PubMed id 17418573)1, 2 Houinato D.... Avode D.G. (2007)
    8. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PubMed id 16382099)1, 3 Catterall W.A....Striessnig J. (2005)
    9. Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. (PubMed id 15072700)1, 4 Ng W.Y....Cheah J.S. (2004)
    10. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. (PubMed id 8004673)1, 2 Ptacek L.J.... Leppert M.F. (1994)

    External Searches for CACNA1S gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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    Genome Databases showing CACNA1S gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 779 HGNC: 1397 AceView: CACNA1S Ensembl:ENSG00000081248 euGenes: HUgn779
    ECgene: CACNA1S Kegg: 779 H-InvDB: CACNA1S

    Other Databases showing CACNA1S gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CACNA1S gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA1S Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNA1S

    Intellectual Property
    for CACNA1S gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CACNA1S gene:
    Search GeneIP for patents involving CACNA1S

    GeneCards and IP:
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