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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] See more...
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-Dependent L-Type Calcium Channel Subunit Alpha-1S 3 4
- Voltage-Gated Calcium Channel Subunit Alpha Cav1.1 3 4
- CACNL1A3 3 4
- Cav1.1 2 3
- HypoPP 2 3
- 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
External Ids for CACNA1S Gene
- HGNC: 1397
- Entrez Gene: 779
- Ensembl: ENSG00000081248
- OMIM: 114208
- UniProtKB: Q13698
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
-
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 Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and ADP signalling through P2Y purinoceptor 12. 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 Summary 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.
-
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.
Additional gene information for CACNA1S Gene
- HGNC(1397)
- Entrez Gene(779)
- Ensembl(ENSG00000081248)
- OMIM(114208)
- UniProtKB(Q13698)
- Open Targets Platform(ENSG00000081248)
- Monarch Initiative
- Search for CACNA1S at DataMed
- Search for CACNA1S at HumanCyc
No data available for CIViC Summary , Rfam classification and piRNA Summary for CACNA1S Gene
Genomics for CACNA1S Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CACNA1S Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA1S
- Top Transcription factor binding sites by QIAGEN in the CACNA1S gene promoter:
-
- AML1a
- C/EBPalpha
- E47
- GR
- GR-alpha
- HOXA9
- HOXA9B
- Meis-1
- Meis-1b
Genomic Locations for CACNA1S Gene
Genomic Locations for CACNA1S Gene
- chr1:201,039,509-201,112,453
- (GRCh38/hg38)
- Size:
- 72,945 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:
-
- 1q32.1 by HGNC
- 1q32.1 by Entrez Gene
- 1q32.1 by Ensembl
CACNA1S Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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 Asn79, Asn257, and Asn1141
- NX_Q13698 (NX_Q13698-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CACNA1S Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-CACNA1S monoclonal antibody, clone nBC 2b
- Creative Biolabs Recombinant Mouse Anti-CACNA1S Antibody (1A)
-
Custom Antibody ServicesOriGene Antibodies for CACNA1S
- Novus Biologicals Antibodies for CACNA1S
-
Abcam antibodies for CACNA1S
- Invitrogen Antibodies for CACNA1S (AFLGC-CACNA1S)
- antibodies-online: Show 7 available CACNA1S Antibodies ranked by validation data
- Compare Top CACNA1S Antibodies
-
Recommended
- 28 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 21 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 18 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
-
Biorbyt antibodies for CACNA1S
-
Boster Bio Antibodies for CACNA1S
-
Santa Cruz Biotechnology (SCBT) Antibodies for CACNA1S
Protein Products
-
OriGene Purified Proteins for CACNA1S
- Search Origene for MassSpec and Protein Over-expression Lysates for CACNA1S
- Origene Custom Protein Services for CACNA1S
- Novus Biologicals proteins for CACNA1S
-
Abcam proteins for CACNA1S
Assay Products
- antibodies-online: Show 6 available CACNA1S Elisa Kits ranked by validation data
- Compare Top CACNA1S Elisa Kits
-
Quality Products:
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
- Transporters
- Voltage-gated ion channels
Protein Domains for CACNA1S Gene
- InterPro:
- Blocks:
-
- Calcium channel signature
- L-type voltage-dependent calcium channel alpha-1 subunit signature
- Voltage-dependent L-type calcium channel alpha-1S subunit signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CACNA1S Gene
- GenScript: Design optimal peptide antigens:
-
- Voltage-gated calcium channel subunit alpha Cav1.1 (CAC1S_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13698UniProtKB/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.
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, and by benzothiazepines.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005245 | voltage-gated calcium channel activity | IBA,IDA | 9852570 |
| GO:0005262 | calcium channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for CACNA1S Gene
- MGI mutant phenotypes for CACNA1S:
-
inferred from 4 alleles
- nervous system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for CACNA1S:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- shRNA abundance <= 25%
- Increased shRNA abundance
- Inconclusive
- Decreased IL-8 secretion
- Decreased shRNA abundance
- Synthetic lethal with c-Myc after tamoxifen stimulation
Animal Models for CACNA1S Gene
- MGI Knock Outs for CACNA1S:
-
- Cacna1s Cacna1s<tm1.1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CACNA1S - Select products 50% OFF >
- * CACNA1S CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CACNA1S
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1S
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1S
miRNA for CACNA1S Gene
- miRTarBase miRNAs that target CACNA1S
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNA1S
- Browse OriGene Inhibitory RNA Products For CACNA1S
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1S
Clone Products
- Applied Biological Materials (abm): Clones for CACNA1S - Select products 50% OFF >
- * CACNA1S as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CACNA1S
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1S
Cell Line Products
-
Horizon Cell Lines for CACNA1S
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, T-tubule. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| endosome | 1 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA1S Gene
Pathways & Interactions for CACNA1S Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
|
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
|
| 2 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
|
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
|
| 3 | Aldosterone synthesis and secretion |
.41
|
|
| 4 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 5 | CCR5 Pathway in Macrophages |
Androgen Signaling
.52
CCR5 Pathway in Macrophages
.52
|
Chemokine Signaling
.33
|
Pathways by source for CACNA1S Gene
3 BioSystems pathways for CACNA1S Gene
8 Reactome pathways for CACNA1S Gene
3 PharmGKB pathways for CACNA1S Gene
24 KEGG pathways for CACNA1S Gene
1 GeneGo (Thomson Reuters) pathway for CACNA1S Gene
- Transcription CREB pathway
40 Qiagen pathways for CACNA1S Gene
- Activation of cAMP-Dependent PKA
- all-trans-Retinoic Acid Signaling in Brain
- Androgen Signaling
- Beta-Adrenergic Signaling
- BMP Pathway
Interacting Proteins for CACNA1S Gene
Selected Interacting proteins:
Q13698-CAC1S_HUMAN
ENSP00000355192
for CACNA1S Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CACNA1S
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IBA,IDA | 9852570 |
| GO:0006936 | muscle contraction | IMP | 17418573 |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for CACNA1S Gene
Drugs & Compounds for CACNA1S Gene
(57) Drugs for CACNA1S Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Nifedipine | Approved | Pharma | Channel blocker, Gating inhibitor, Antagonist, Pore Blocker, Agonist, Activator, Target, inhibitor, blocker | 148 | ||
| Felodipine | Approved, Investigational | Pharma | Activator, Potentiation, Target, inhibitor, blocker | 23 | ||
| Verapamil | Approved | Pharma | Channel blocker, Pore Blocker, Inhibitor, Inhibition, blocker | 134 | ||
| Nimodipine | Approved, Investigational | Pharma | Activator, Potentiation, Target, inhibitor | Ca2+ channel blocker (L-type) | 42 | |
| Nitrendipine | Approved, Investigational | Pharma | Pore Blocker, Inhibition, Target, inhibitor | Calcium channel blocker, Ca2+ channel blocker (L-type) | 8 |
| 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 |
(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 |
Transcripts for CACNA1S Gene
mRNA/cDNA for CACNA1S Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367338 5996 nts (view in UCSC)
- ENST00000362061 6028 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CACNA1S - Select products 50% OFF >
- * CACNA1S CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CACNA1S
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1S
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1S
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNA1S
- Browse OriGene Inhibitory RNA Products For CACNA1S
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1S
Clone Products
- Applied Biological Materials (abm): Clones for CACNA1S - Select products 50% OFF >
- * CACNA1S as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CACNA1S
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1S
Relevant External Links for CACNA1S Gene
- GeneLoc Exon Structure for
- CACNA1S
Expression for CACNA1S Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CACNA1S Gene
This gene is overexpressed in Muscle - Skeletal (x50.7).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNA1S
SOURCE GeneReport for Unigene cluster for CACNA1S Gene:
Hs.1294mRNA 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)
- Heart(2.5)
- Nervous system(2.4)
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
Primer Products
-
OriGene qPCR primer pairs for CACNA1S
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for CACNA1S Gene
Orthologs for CACNA1S Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CACNA1S 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CACNA1S 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cacna1s 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cacna1s 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CACNA1S 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CACNA1S 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CACNA1S 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CACNA1S 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CACNA1S 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11094 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cacna1sa 30 31 |
|
OneToMany | |
| cacna1sb 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ca-alpha1D 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | egl-19 31 32 |
|
OneToOne | |
| unc-2 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for CACNA1S was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for CACNA1S Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA1S Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638345 | Uncertain Significance: Hypokalemic periodic paralysis 1 | 201,073,548(-) | C/T | SPLICE_DONOR_VARIANT | |
| 639106 | Uncertain Significance: Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis 1 | 201,043,357(-) | G/A | MISSENSE_VARIANT | |
| 639552 | Likely Pathogenic: Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis 1 | 201,043,533(-) | T/C | SPLICE_ACCEPTOR_VARIANT | |
| 641324 | Uncertain Significance: Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis 1; not provided | 201,047,144(-) | G/A | MISSENSE_VARIANT | |
| 641633 | Pathogenic: Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis 1 | 201,051,072(-) | G/T | NONSENSE |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1S Gene
Disorders for CACNA1S Gene
(43) MalaCards diseases for CACNA1S Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypokalemic periodic paralysis, type 1 |
|
|
| malignant hyperthermia 5 |
|
|
| thyrotoxic periodic paralysis 1 |
|
|
| periodic paralysis with transient compartment-like syndrome |
|
|
| malignant hyperthermia |
|
|
Search CACNA1S in MalaCards
View complete list of genes associated with diseases
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
- Open Targets Platform
No data available for Genatlas for CACNA1S Gene
Publications for CACNA1S Gene
- 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 23
- Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID: 19118277) Matthews E … Hanna MG (Neurology 2009) 3 4 23
- Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID: 19191329) Levano S … Girard T (Human mutation 2009) 3 23 41
- The role of CACNA1S in predisposition to malignant hyperthermia. (PMID: 19825159) Carpenter D … Shaw MA (BMC medical genetics 2009) 3 23 41
- 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 23 41
ExternalLinks
Products for CACNA1S Gene
- Custom Antibody ServicesOriGene Antibodies for CACNA1S
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- Custom Assay Services
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- Novus Biologicals proteins for CACNA1S
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- VectorBuilder Custom and pre-made DNA vectors for CACNA1S (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CACNA1S (ie. lentivirus, AAV, adenovirus)
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- antibodies-online: Show 7 available CACNA1S Antibodies ranked by validation data
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- 18 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- antibodies-online: Show 6 available CACNA1S Elisa Kits ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CACNA1S
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- Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1S
- Horizon Cell Lines for CACNA1S
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1S
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1S
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CACNA1S
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1S
- Boster Bio Antibodies for CACNA1S
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for CACNA1S
Sources for CACNA1S Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (50) miRBase
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- (53) PubMed
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- (55) TGDB
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- (57) Abcam
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- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
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