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CACNA1S Gene(Protein Coding)

Calcium Voltage-Gated Channel Subunit Alpha1 S

GCID:
GC01M201008
GIFtS:
69
Genes Participants
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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
  • CACH1 4
  • TTPP1 3
  • HOKPP 3
  • 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 Susceptibility 5. Among its related pathways are CCR5 Pathway in Macrophages and Serotonergic synapse. 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

  • 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.

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

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

Genomics for CACNA1S Gene

Products:

  1. Regulatory Element

Regulatory Elements for CACNA1S Gene

Enhancers for CACNA1S Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G201305 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 -197.0 -197048 7.5 HDGF PKNOX1 MLX ARID4B SIN3A ZBTB7B YY1 ZNF207 ZNF143 FOS PKP1 LAD1 ENSG00000229821 IGFN1 ASCL5 CACNA1S INAVA GC01P201285 GC01M201335
GH01G201153 1.1 ENCODE 11 -41.8 -41827 1.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF143 TMEM9 DDX59 IGFN1 ASCL5 CACNA1S ENSG00000229821
GH01G201294 1.2 ENCODE dbSUPER 9.7 -186.8 -186764 9.9 PKNOX1 NFIB SIN3A KLF17 RAD21 ZNF335 ZNF121 ZNF366 SCRT2 SMARCC2 IPO9 IPO9-AS1 ENSG00000229821 IGFN1 PKP1 LAD1 ASCL5 CACNA1S GC01P201285 GC01M201335
GH01G201043 1 ENCODE dbSUPER 10.7 +69.5 69489 0.1 CTCF MXI1 CBX3 RB1 WRNIP1 MAX BMI1 ZIC2 RAD21 RFX5 ENSG00000234132 CACNA1S ASCL5 IGFN1 GC01M201077
GH01G201136 0.8 ENCODE dbSUPER 12.1 -25.1 -25148 1.6 JUND KLF1 CEBPA CREB1 CEBPB FOS CACNA1S ASCL5 IGFN1 TMEM9 PKP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNA1S on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CACNA1S gene promoter:

Genomic Location for CACNA1S Gene

Chromosome:
1
Start:
201,039,507 bp from pter
End:
201,112,566 bp from pter
Size:
73,060 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 Structure • Gene Density

RefSeq DNA sequence for CACNA1S Gene

Proteins for CACNA1S Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • 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).

    Three dimensional structures from OCA and Proteopedia for CACNA1S Gene

neXtProt entry for CACNA1S Gene

Protein Expression for CACNA1S Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CACNA1S Gene

  • Phosphorylation by PKA activates the calcium channel.
  • Glycosylation at posLast=7979, posLast=257257, and Asn1141
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1S Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CACNA1S

No data available for DME Specific Peptides for CACNA1S Gene

Domains & Families for CACNA1S Gene

Gene Families for CACNA1S Gene

HGNC:
IUPHAR :

Protein Domains for CACNA1S Gene

InterPro:
Blocks:
ProtoNet:

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

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  2. CRISPR
  3. miRNA
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  7. Flow Cytometry

Molecular function for CACNA1S Gene

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)
UniProtKB/Swiss-Prot 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.

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:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008331 high voltage-gated calcium channel activity IDA 9852570
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Membrane; Multi-pass membrane protein.

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

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IDA,IEA 9852570
GO:0006936 muscle contraction IMP 17418573
GO:0034765 regulation of ion 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nifedipine Approved Pharma Antagonist, Gating inhibitor, blocker, Target, inhibitor 118
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 130
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker, Target, inhibitor 22
Cinnarizine Approved Pharma Target, inhibitor 2
Ethanol Approved Pharma Target 2137

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
omega-agatoxin IVA
Channel blocker 145017-83-0
omega-conotoxin GVIA
Channel blocker 106375-28-4

(5) Tocris Compounds for CACNA1S Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) 106375-28-4
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 148553-50-8

(3) ApexBio Compounds for CACNA1S Gene

Compound Action Cas Number
Amlodipine Besylate Block of L-type calcium channel 111470-99-6
Azelnidipine L-type calcium channel blocker;antihypertensive 123524-52-7
Lacidipine L-type calcium channel blocker 103890-78-4
genes like me logo Genes that share compounds with CACNA1S: view

Transcripts for CACNA1S Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for CACNA1S Gene
mRNA expression by BioGPS for CACNA1S GenemRNA expression by GTEx 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, PaxDb, 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
Organs:
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

Primer Products

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 35
  • 98.59 (n)
dog
(Canis familiaris)
 Mammalia CACNA1S 34 35
  • 90.51 (n)
rat
(Rattus norvegicus)
 Mammalia Cacna1s 34
  • 88.39 (n)
mouse
(Mus musculus)
 Mammalia Cacna1s 34 16 35
  • 88.2 (n)
oppossum
(Monodelphis domestica)
 Mammalia CACNA1S 35
  • 86 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CACNA1S 34 35
  • 83.93 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CACNA1S 35
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CACNA1S 34 35
  • 78.16 (n)
lizard
(Anolis carolinensis)
 Reptilia CACNA1S 35
  • 77 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11094 34
zebrafish
(Danio rerio)
 Actinopterygii cacna1sa 34 35
  • 71.93 (n)
cacna1sb 35
  • 68 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Ca-alpha1D 36 35
  • 58 (a)
worm
(Caenorhabditis elegans)
 Secernentea egl-19 36 35
  • 61 (a)
unc-2 36
  • 44 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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)

Paralogs for CACNA1S Gene

Paralogs for CACNA1S Gene

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

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 Sequence Context AA Info Type
rs1800559 other, Malignant hyperthermia 5 (MHS5) [MIM:601887] 201,060,815(-) ACAGC(A/G/T)CCAAT reference, missense
rs28930068 Pathogenic, Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] 201,053,538(-) GTTCC(A/G)TGTCA reference, missense
rs28930069 Pathogenic, Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] 201,053,539(-) TGTTC(C/G)GTGTC reference, missense
rs80338777 Pathogenic, Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] 201,077,915(-) GCTCC(A/G/T)CTGCA reference, missense
rs80338778 Pathogenic, Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] 201,077,916(-) TGCTC(C/G/T)GCTGC reference, missense

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)

Relevant External Links 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

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

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1S_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for CACNA1S

Genetic Association Database (GAD)
CACNA1S
Human Genome Epidemiology (HuGE) Navigator
CACNA1S
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1S
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 calcium channel (CACNL1A3) to chromosome 1q31- q32. (PMID: 7916735) Gregg R.G. … Powers P.A. (Genomics 1993) 2 3 4 22 64
  2. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID: 19118277) Matthews E. … Hanna M.G. (Neurology 2009) 3 4 22 64
  3. Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID: 19191329) Levano S. … Girard T. (Hum. Mutat. 2009) 3 22 46 64
  4. The role of CACNA1S in predisposition to malignant hyperthermia. (PMID: 19825159) Carpenter D. … Shaw M.A. (BMC Med. Genet. 2009) 3 22 46 64
  5. Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. (PMID: 15711422) Lin S.H. … Kao M.C. (Am. J. Med. Sci. 2005) 3 22 46 64

Products for CACNA1S Gene

Sources for CACNA1S Gene

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