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Aliases for CACNA1S Gene

Aliases for CACNA1S Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 S 2 3 5
  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1S Subunit 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.1 3 4
  • CACNL1A3 3 4
  • Calcium Channel, L Type, Alpha 1 Polypeptide, Isoform 3 (Skeletal Muscle, Hypokalemic Periodic Paralysis) 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 3, Skeletal Muscle 4
  • Dihydropyridine-Sensitive L-Type Calcium Channel Alpha-1 Subunit 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1S 3
  • Dihydropyridine Receptor Alpha 1 Subunit 3
  • CCHL1A3 3
  • Cav1.1 3
  • HOKPP1 3
  • HypoPP 3
  • TTPP1 3
  • HOKPP 3
  • CACH1 4
  • CACN1 4
  • MHS5 3

External Ids for CACNA1S Gene

Previous HGNC Symbols for CACNA1S Gene

  • HOKPP
  • MHS5
  • CACNL1A3

Previous GeneCards Identifiers for CACNA1S Gene

  • GC01M198738
  • GC01M196467
  • GC01M197475
  • GC01M198296
  • GC01M197740
  • GC01M199275
  • GC01M172185

Summaries for CACNA1S Gene

Entrez Gene Summary for CACNA1S Gene

  • 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]

GeneCards Summary for CACNA1S Gene

CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S) is a Protein Coding gene. Diseases associated with CACNA1S include Hypokalemic Periodic Paralysis, Type 1 and Malignant Hyperthermia 5. Among its related pathways are Fc-GammaR Pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include ion channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNA1C.

UniProtKB/Swiss-Prot for CACNA1S Gene

  • Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group.

Tocris Summary for CACNA1S Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1S Gene

Additional gene information for CACNA1S Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1S Gene

Genomics for CACNA1S Gene

GeneHancer (GH) Regulatory Elements for CACNA1S Gene

Promoters and enhancers for CACNA1S Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J201113 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 650.7 -1.8 -1801 1.3 PKNOX1 SIN3A ZNF2 ZBTB7B ZNF48 GLIS2 ELK1 ARID2 ZNF143 DEK CACNA1S GC01P201114 ASCL5
GH01J201110 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 656 +0.7 665 2.2 ZNF263 BHLHE40 MNT ZIC2 ZNF18 CACNA1S ASCL5 IPO9-AS1 ELF3-AS1 TMEM9 GC01M201077
GH01J201153 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 -41.8 -41827 1.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 TMEM9 DDX59 RNPEP ENSG00000273478 ELF3-AS1 IGFN1 ASCL5 CACNA1S ENSG00000229821
GH01J201305 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 -197.0 -197048 7.5 HDGF PKNOX1 FOXA2 CLOCK MLX ARID4B NEUROD1 SIN3A ZBTB7B YY1 PKP1 LAD1 ENSG00000229821 IGFN1 ASCL5 CACNA1S ELF3-AS1 INAVA GC01P201285 GC01M201335
GH01J201043 Enhancer 1 ENCODE dbSUPER 10.7 +69.5 69488 0.1 RB1 NEUROD1 BMI1 RAD21 RFX5 ZNF213 ARID2 ZNF143 BCLAF1 DEK ENSG00000234132 CACNA1S ASCL5 IGFN1 LOC101929305 GC01M201077
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1S on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1S gene promoter:
  • GR
  • Meis-1
  • HOXA9B
  • HOXA9
  • GR-alpha
  • Meis-1b
  • E47
  • AML1a
  • C/EBPalpha

Genomic Locations for CACNA1S Gene

Genomic Locations for CACNA1S Gene
chr1:201,039,507-201,112,566
(GRCh38/hg38)
Size:
73,060 bases
Orientation:
Minus strand
chr1:201,008,640-201,081,694
(GRCh37/hg19)
Size:
73,055 bases
Orientation:
Minus strand

Genomic View for CACNA1S Gene

Genes around CACNA1S on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1S Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1S Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1S Gene

Proteins for CACNA1S Gene

  • Protein details for CACNA1S Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13698-CAC1S_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1S
    Protein Accession:
    Q13698
    Secondary Accessions:
    • A4IF51
    • B1ALM2
    • Q12896
    • Q13934

    Protein attributes for CACNA1S Gene

    Size:
    1873 amino acids
    Molecular mass:
    212350 Da
    Quaternary structure:
    • Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2 (By similarity). CACNA1S channel activity is modulated by the auxiliary subunits (CACNB1 or CACNB2, CACNG1 and CACNA2D1). Interacts with DYSF and JSRP1 (By similarity). Interacts with RYR1 (By similarity). Interacts with STAC, STAC2 and STAC3 (via their SH3 domains) (PubMed:29078335). Interacts with CALM (PubMed:19473981).

    Three dimensional structures from OCA and Proteopedia for CACNA1S Gene

neXtProt entry for CACNA1S Gene

Post-translational modifications for CACNA1S Gene

  • The alpha-1S subunit is found in two isoforms in the skeletal muscle: a minor form of 212 kDa containing the complete amino acid sequence, and a major form of 190 kDa derived from the full-length form by post-translational proteolysis close to Phe-1690.
  • Both the minor and major forms are phosphorylated in vitro by PKA. Phosphorylation by PKA activates the calcium channel.
  • Glycosylation at posLast=11411141, Asn257, and posLast=7979
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1S Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNA1S Gene

Domains & Families for CACNA1S Gene

Gene Families for CACNA1S Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for CACNA1S Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13698

UniProtKB/Swiss-Prot:

CAC1S_HUMAN :
  • 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.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily.
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.
  • 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.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily.
genes like me logo Genes that share domains with CACNA1S: view

Function for CACNA1S Gene

Molecular function for CACNA1S Gene

UniProtKB/Swiss-Prot Function:
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group.
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity is blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). It is however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).
GENATLAS Biochemistry:
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)

Phenotypes From GWAS Catalog for CACNA1S Gene

Gene Ontology (GO) - Molecular Function for CACNA1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IDA 9852570
GO:0005261 cation channel activity IBA --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CACNA1S: view
genes like me logo Genes that share phenotypes with CACNA1S: view

Human Phenotype Ontology for CACNA1S Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1S Gene

MGI Knock Outs for CACNA1S:

Animal Model Products

miRNA for CACNA1S Gene

miRTarBase miRNAs that target CACNA1S

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNA1S Gene

Localization for CACNA1S Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1S Gene

Cell membrane, sarcolemma; Multi-pass membrane protein. Note=Detected on T-tubules (extensions of the sarcolemma). {ECO:0000250 UniProtKB:P07293}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1S gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for CACNA1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11206130
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IDA 9852570
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNA1S: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA1S Gene

Pathways & Interactions for CACNA1S Gene

genes like me logo Genes that share pathways with CACNA1S: view

Gene Ontology (GO) - Biological Process for CACNA1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IDA 9852570
GO:0006936 muscle contraction IMP 17418573
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNA1S: view

No data available for SIGNOR curated interactions for CACNA1S Gene

Drugs & Compounds for CACNA1S Gene

(52) Drugs for CACNA1S Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nifedipine Approved Pharma Gating inhibitor, Channel blocker, Antagonist, Pore Blocker, Agonist, Activator, blocker, Target, inhibitor 123
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker, Target, inhibitor 135
Nimodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor Ca2+ channel blocker (L-type) 27
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker, Target, inhibitor Calcium channel blocker, Ca2+ channel blocker (L-type) 5
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker, Target, inhibitor 22

(5) Additional Compounds for CACNA1S Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
Verapamil hydrochloride
152-11-4

(5) Tocris Compounds for CACNA1S Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Nimodipine Ca2+ channel blocker (L-type) 66085-59-4
Nitrendipine Ca2+ channel blocker (L-type) 39562-70-4
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Verapamil hydrochloride Ca2+ channel blocker (L-type) 152-11-4
genes like me logo Genes that share compounds with CACNA1S: view

Transcripts for CACNA1S Gene

mRNA/cDNA for CACNA1S Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNA1S Gene

Calcium channel, voltage-dependent, L type, alpha 1S subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1S Gene

No ASD Table

Relevant External Links for CACNA1S Gene

GeneLoc Exon Structure for
CACNA1S
ECgene alternative splicing isoforms for
CACNA1S

Expression for CACNA1S Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNA1S Gene

mRNA differential expression in normal tissues according to GTEx for CACNA1S Gene

This gene is overexpressed in Muscle - Skeletal (x50.7).

Protein differential expression in normal tissues from HIPED for CACNA1S Gene

This gene is overexpressed in Ovary (26.1), Frontal cortex (19.2), and Bone marrow stromal cell (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1S Gene



NURSA nuclear receptor signaling pathways regulating expression of CACNA1S Gene:

CACNA1S

SOURCE GeneReport for Unigene cluster for CACNA1S Gene:

Hs.1294

mRNA Expression by UniProt/SwissProt for CACNA1S Gene:

Q13698-CAC1S_HUMAN
Tissue specificity: Skeletal muscle specific.

Evidence on tissue expression from TISSUES for CACNA1S Gene

  • Muscle(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1S Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CACNA1S: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CACNA1S Gene

Orthologs for CACNA1S Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1S Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1S 34 33
  • 98.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1S 34 33
  • 90.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1s 33
  • 88.39 (n)
mouse
(Mus musculus)
Mammalia Cacna1s 16 34 33
  • 88.2 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNA1S 34
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1S 34 33
  • 83.93 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1S 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1S 34 33
  • 78.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1S 34
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11094 33
zebrafish
(Danio rerio)
Actinopterygii cacna1sa 34 33
  • 71.93 (n)
OneToMany
cacna1sb 34
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 34 35
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea egl-19 34 35
  • 53 (a)
OneToOne
unc-2 35
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
ManyToMany
Species where no ortholog for CACNA1S was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CACNA1S Gene

ENSEMBL:
Gene Tree for CACNA1S (if available)
TreeFam:
Gene Tree for CACNA1S (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1S: view image

Paralogs for CACNA1S Gene

Paralogs for CACNA1S Gene

(10) SIMAP similar genes for CACNA1S Gene using alignment to 2 proteins:

  • CAC1S_HUMAN
  • B1ALM3_HUMAN
genes like me logo Genes that share paralogs with CACNA1S: view

Variants for CACNA1S Gene

Sequence variations from dbSNP and Humsavar for CACNA1S Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1037271542 uncertain-significance, Hypokalemic periodic paralysis, Malignant hyperthermia susceptibility 201,112,545(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs112868209 benign, likely-benign, not specified, Hypokalemic periodic paralysis, Malignant hyperthermia susceptibility, Hypokalemic periodic paralysis 1, Malignant hyperthermia susceptibility type 5 201,110,170(-) G/A coding_sequence_variant, synonymous_variant
rs113792034 benign, likely-benign, not specified, Malignant hyperthermia susceptibility, Hypokalemic periodic paralysis 201,065,959(-) G/A intron_variant
rs114191482 benign, likely-benign, not specified, Hypokalemic periodic paralysis, Malignant hyperthermia susceptibility, not provided, Hypokalemic periodic paralysis 1, Malignant hyperthermia susceptibility type 5 201,077,036(-) C/T coding_sequence_variant, missense_variant
rs114243233 benign, not specified, Hypokalemic periodic paralysis 1, Malignant hyperthermia susceptibility type 5 201,041,496(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1S Gene

Variant ID Type Subtype PubMed ID
esv1000350 CNV deletion 20482838
nsv4054 CNV insertion 18451855
nsv428301 CNV gain 18775914
nsv515571 CNV loss 19592680

Variation tolerance for CACNA1S Gene

Residual Variation Intolerance Score: 61.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.17; 98.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA1S Gene

Human Gene Mutation Database (HGMD)
CACNA1S
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1S

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1S Gene

Disorders for CACNA1S Gene

MalaCards: The human disease database

(22) MalaCards diseases for CACNA1S Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypokalemic periodic paralysis, type 1
  • hokpp1
malignant hyperthermia 5
  • malignant hyperthermia, susceptibility to, 5
thyrotoxic periodic paralysis 1
  • thyrotoxic periodic paralysis, susceptibility to, 1
periodic paralysis with transient compartment-like syndrome
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1S_HUMAN
  • Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. {ECO:0000269 PubMed:17418573, ECO:0000269 PubMed:18162704, ECO:0000269 PubMed:19118277, ECO:0000269 PubMed:7987325, ECO:0000269 PubMed:8004673}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Malignant hyperthermia 5 (MHS5) [MIM:601887]: Autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. {ECO:0000269 PubMed:9199552}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Thyrotoxic periodic paralysis 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. {ECO:0000269 PubMed:15001631}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for CACNA1S

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CACNA1S: view

No data available for Genatlas for CACNA1S Gene

Publications for CACNA1S Gene

  1. Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. (PMID: 7916735) Gregg RG … Powers PA (Genomics 1993) 2 3 4 22 58
  2. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID: 19118277) Matthews E … Hanna MG (Neurology 2009) 3 4 22 58
  3. Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID: 19191329) Levano S … Girard T (Human mutation 2009) 3 22 44 58
  4. The role of CACNA1S in predisposition to malignant hyperthermia. (PMID: 19825159) Carpenter D … Shaw MA (BMC medical genetics 2009) 3 22 44 58
  5. Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. (PMID: 15711422) Lin SH … Kao MC (The American journal of the medical sciences 2005) 3 22 44 58

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