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
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 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.
-
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
- Monarch Initiative
- Search for CACNA1S at DataMed
- Search for CACNA1S at HumanCyc
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
- 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
Regulatory Element Products
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:
-
- 1q32.1 by Entrez Gene
- 1q32.1 by HGNC
- 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 posLast=11411141, Asn257, and posLast=7979
- Modification sites at PhosphoSitePlus
Other Protein References for CACNA1S Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CACNA1S
- Novus Biologicals Antibodies for CACNA1S
-
Abcam antibodies for CACNA1S
- Invitrogen Antibodies for CACNA1S (AFLGC-CACNA1S)
- antibodies-online: Search results for 58 available CACNA1S Antibodies ranked by validation data
- Compare Top CACNA1S Antibodies
-
Recommended
- 30 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IHC (p) Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 22 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 20 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- GeneTex CACNA1S Antibody 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
- Search GeneTex for Proteins for CACNA1S
-
Abcam proteins for CACNA1S
Assay 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
- Voltage-gated ion channels
Protein Domains for CACNA1S Gene
Suggested Antigen Peptide Sequences for CACNA1S Gene
- GenScript: Design optimal peptide antigens:
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, 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
| 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 |
Phenotypes for CACNA1S Gene
- MGI mutant phenotypes for CACNA1S:
-
inferred from 4 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- skeleton phenotype
- embryo phenotype
- adipose tissue phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CACNA1S:
-
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Decreased IL-8 secretion
- Increased viability
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for CACNA1S
-
CRISPR Products
-
OriGene CRISPR knockouts for CACNA1S
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1S
- genomics-online: gRNA clones - Search results for 81 available CACNA1S gene related products
- Overview of 81 available CACNA1S gene related products
- Applied Biological Materials CRISPR for CACNA1S
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1S
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 81 available CACNA1S gene related products
- Overview of 81 available CACNA1S gene related products
Clone Products
-
OriGene ORF clones in human for CACNA1S
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CACNA1S
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1S
- Applied Biological Materials Clones for CACNA1S
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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; Multi-pass membrane protein. Note=Detected on T-tubules (extensions of the sarcolemma). {ECO:0000250 UniProtKB:P07293}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 2 |
| 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 | Aldosterone synthesis and secretion | ||
| 2 | TCR Signaling (Qiagen) |
.68
|
.39
|
| 3 | BMP Pathway |
.44
|
.36
|
| 4 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
| 5 | Vascular smooth muscle contraction | ||
Pathways by source for CACNA1S Gene
3 BioSystems pathways for CACNA1S Gene
8 Reactome pathways for CACNA1S Gene
3 PharmGKB pathways for CACNA1S Gene
22 KEGG pathways for CACNA1S Gene
1 GeneGo (Thomson Reuters) pathway for CACNA1S Gene
40 Qiagen pathways for CACNA1S Gene
Interacting Proteins for CACNA1S Gene
Selected Interacting proteins:
ENSP00000355192
Q13698-CAC1S_HUMAN
for CACNA1S Gene via
STRING
IID
MINT
UniProtKB
GPS-Prot Interaction Network for CACNA1S
| 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 | -- |
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 |
| 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 |
Drug Products
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 :
-
- ENST00000367338 5996 bps (uc057ogj.1)
- ENST00000362061 6166 bps (uc001gvv.4)
Unigene Clusters for CACNA1S Gene
CRISPR Products
-
OriGene CRISPR knockouts for CACNA1S
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1S
- genomics-online: gRNA clones - Search results for 81 available CACNA1S gene related products
- Overview of 81 available CACNA1S gene related products
- Applied Biological Materials CRISPR for CACNA1S
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1S
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 81 available CACNA1S gene related products
- Overview of 81 available CACNA1S gene related products
Clone Products
-
OriGene ORF clones in human for CACNA1S
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CACNA1S
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1S
- Applied Biological Materials Clones for CACNA1S
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CACNA1S Gene
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
NURSA nuclear receptor signaling pathways regulating expression of CACNA1S Gene:
CACNA1SSOURCE 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)
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
- genomics-online: primer clones - Search results for 81 available CACNA1S gene related products
- Overview of 81 available CACNA1S gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CACNA1S 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CACNA1S 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cacna1s 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cacna1s 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CACNA1S 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CACNA1S 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CACNA1S 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CACNA1S 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CACNA1S 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11094 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cacna1sa 34 33 |
|
OneToMany | |
| cacna1sb 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Ca-alpha1D 34 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | egl-19 34 35 |
|
OneToOne | |
| unc-2 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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
Variants 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 |
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
(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 |
|
|
| malignant hyperthermia 5 |
|
|
| thyrotoxic periodic paralysis 1 |
|
|
| periodic paralysis with transient compartment-like syndrome |
|
|
| thyrotoxic periodic paralysis |
|
|
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
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 22 58
- Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID: 19118277) Matthews E … Hanna MG (Neurology 2009) 3 4 22 58
- Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID: 19191329) Levano S … Girard T (Human mutation 2009) 3 22 44 58
- The role of CACNA1S in predisposition to malignant hyperthermia. (PMID: 19825159) Carpenter D … Shaw MA (BMC medical genetics 2009) 3 22 44 58
- 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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Sources for CACNA1S Gene
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