Aliases for CACNA1A Gene
Aliases for CACNA1A Gene
- Calcium Voltage-Gated Channel Subunit Alpha1 A 2 3 5
- Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit 2 3
- Voltage-Gated Calcium Channel Subunit Alpha Cav2.1 3 4
- Brain Calcium Channel I 3 4
- CACNL1A4 3 4
- BI 3 4
- Fetal Brain Ca2+ Voltage-Gated Channel Alpha1A Pore-Forming Subunit 3
- Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A 3
- Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 4
- Calcium Channel, L Type, Alpha-1 Polypeptide 3
- Brain Calcium Channel 1 3
- CAV2.1 3
External Ids for CACNA1A Gene
- HGNC: 1388
- Entrez Gene: 773
- Ensembl: ENSG00000141837
- OMIM: 601011
- UniProtKB: O00555
Previous HGNC Symbols for CACNA1A Gene
- CACNL1A4
- SCA6
- MHP1
- MHP
Previous GeneCards Identifiers for CACNA1A Gene
- GC19M013650
- GC19M013162
- GC19M013179
- GC19M013317
- GC19M012889
Summaries for CACNA1A Gene
-
Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
GeneCards Summary for CACNA1A Gene
CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) is a Protein Coding gene. Diseases associated with CACNA1A include Spinocerebellar Ataxia 6 and Episodic Ataxia, Type 2. Among its related pathways are Fc-GammaR Pathway and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated calcium channel activity. An important paralog of this gene is CACNA1B.
UniProtKB/Swiss-Prot for CACNA1A 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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
-
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 CACNA1A Gene
- Monarch Initiative
- Search for CACNA1A at DataMed
- Search for CACNA1A at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1A Gene
Genomics for CACNA1A Gene
GeneHancer (GH) Regulatory Elements for CACNA1A Gene
Promoters and enhancers for CACNA1A 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 CACNA1A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CACNA1A gene promoter:
-
- TBP
- S8
- c-Myb
Regulatory Element Products
Genomic Locations for CACNA1A Gene
Genomic Locations for CACNA1A Gene
- chr19:13,206,442-13,633,025
- (GRCh38/hg38)
- Size:
- 426,584 bases
- Orientation:
- Minus strand
- chr19:13,317,256-13,734,804
- (GRCh37/hg19)
- Size:
- 417,549 bases
- Orientation:
- Minus strand
Genomic View for CACNA1A Gene
Genes around CACNA1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.13 by Entrez Gene
- 19p13.13 by HGNC
- 19p13.13 by Ensembl
CACNA1A 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 CACNA1A Gene
Proteins for CACNA1A Gene
-
Protein details for CACNA1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00555-CAC1A_HUMAN
- Recommended name:
- Voltage-dependent P/Q-type calcium channel subunit alpha-1A
- Protein Accession:
- O00555
- J3KP41
- P78510
- P78511
- Q16290
- Q92690
- Q99790
- Q99791
- Q99792
- Q99793
- Q9NS88
- Q9UDC4
Protein attributes for CACNA1A Gene
- Size:
- 2505 amino acids
- Molecular mass:
- 282365 Da
- Quaternary structure:
-
- Voltage-dependent calcium channels are multisubunit complexes, 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. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes.
- SequenceCaution:
-
- Sequence=AAB49678.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
Protein Expression for CACNA1A Gene
Post-translational modifications for CACNA1A Gene
Other Protein References for CACNA1A Gene
- ENSEMBL proteins:
-
- ENSP00000464729
- ENSP00000467729
- ENSP00000465598
- ENSP00000489778
- ENSP00000489777
- ENSP00000460092
- ENSP00000490190
- ENSP00000489913
- ENSP00000489715
- ENSP00000490686
- ENSP00000460276
- ENSP00000490323
- ENSP00000490223
- ENSP00000490173
- ENSP00000490075
- ENSP00000490578
- ENSP00000490475
- ENSP00000479983
- ENSP00000353362
- ENSP00000489829
- ENSP00000490617
- ENSP00000489992
- ENSP00000489692
- ENSP00000490001
- ENSP00000459963
- ENSP00000489861
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CACNA1A
- Novus Biologicals Antibodies for CACNA1A
-
Abcam antibodies for CACNA1A
- Invitrogen Antibodies for CACNA1A (AFLGC-CACNA1A)
- antibodies-online: Search results for 32 available CACNA1A Antibodies ranked by validation data
- Compare Top CACNA1A Antibodies
-
Recommended
- 13 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 1 IP Antibody (anti-rat)
- 12 IF (p) Antibodies (anti-human)
- 8 WB Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-mouse)
- 7 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- GeneTex CACNA1A Antibody for CACNA1A
-
Boster Bio Antibodies for CACNA1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for CACNA1A
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CACNA1A
- Origene Custom Protein Services for CACNA1A
- Novus Biologicals proteins for CACNA1A
- Search GeneTex for Proteins for CACNA1A
-
Abcam proteins for CACNA1A
Assay Products
No data available for DME Specific Peptides for CACNA1A Gene
Domains & Families for CACNA1A Gene
Gene Families for CACNA1A Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for CACNA1A Gene
Suggested Antigen Peptide Sequences for CACNA1A Gene
- GenScript: Design optimal peptide antigens:
-
- Fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit (B3SZS3_HUMAN)
- Neuronal calcium channel alpha 1a subunit Cav 2.1 (B5TYJ1_HUMAN)
- Voltage-gated calcium channel subunit alpha Cav2.1 (CAC1A_HUMAN)
- Voltage-dependent P/Q type calcium channel alpha 1A subunit (O95387_HUMAN)
- Alpha1A-voltage-dependent calcium channel (Q9NS88_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O00555UniProtKB/Swiss-Prot:
CAC1A_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. CACNA1A 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.
- Family:
-
- Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily.
Function for CACNA1A Gene
Molecular function for CACNA1A 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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
- GENATLAS Biochemistry:
- calcium voltage-gated channel (VDCC),P/Q type,alpha 1A subunit,isoform 4,abundantly expressed in neuronal tissue,containing a GCG repeat in 5utr (exon 47) responsible of cytoplasmic aggregation in the Purkinje cell,ortholog of the mouse gene responsible for the phenotypes,tottering (tg) and leaner (tgla)
Phenotypes From GWAS Catalog for CACNA1A 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 | TAS,IEA | -- |
| GO:0005261 | cation channel activity | IBA | -- |
| GO:0005262 | calcium channel activity | TAS,IEA | -- |
Phenotypes for CACNA1A Gene
- MGI mutant phenotypes for CACNA1A:
-
inferred from 32 alleles
- respiratory system phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- reproductive system phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CACNA1A:
-
- Wnt reporter downregulated
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased shRNA abundance
- Decreased viability
- no effect
- Increased caspase activity
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Decreased NF-kappaB reporter expression
- Increased cell number in S
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for CACNA1A Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CACNA1A
- Cyagen custom Knockout/knockin (KOKI) mouse models for CACNA1A
-
CRISPR Products
-
OriGene CRISPR knockouts for CACNA1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1A
- genomics-online: gRNA clones - Search results for 101 available CACNA1A gene related products
- Overview of 101 available CACNA1A gene related products
- Applied Biological Materials CRISPR for CACNA1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1A
- GenScript: Design CRISPR guide RNA sequences for CACNA1A
miRNA for CACNA1A Gene
- miRTarBase miRNAs that target CACNA1A
-
- hsa-mir-335-3p (MIRT572332)
- hsa-mir-4307 (MIRT572333)
- hsa-mir-33a-3p (MIRT572334)
- hsa-mir-548c-3p (MIRT572335)
- hsa-mir-744-5p (MIRT608758)
- hsa-mir-4749-5p (MIRT608759)
- hsa-mir-4706 (MIRT608760)
- hsa-mir-4734 (MIRT608761)
- hsa-mir-6893-3p (MIRT608762)
- hsa-mir-370-3p (MIRT608763)
- hsa-mir-4485-5p (MIRT608764)
- hsa-mir-2355-5p (MIRT616318)
- hsa-mir-6516-3p (MIRT616319)
- hsa-mir-642b-5p (MIRT616320)
- hsa-mir-519e-5p (MIRT659923)
- hsa-mir-515-5p (MIRT659924)
- hsa-mir-5695 (MIRT659925)
- hsa-mir-519d-5p (MIRT659926)
- hsa-mir-6793-3p (MIRT659927)
- hsa-mir-186-3p (MIRT659928)
- hsa-mir-148a-5p (MIRT659929)
- hsa-mir-1224-3p (MIRT783137)
- hsa-mir-1231 (MIRT783182)
- hsa-mir-1260a (MIRT783238)
- hsa-mir-1260b (MIRT783239)
- hsa-mir-1273g-5p (MIRT783343)
- hsa-mir-147a (MIRT783847)
- hsa-mir-188-5p (MIRT783997)
- hsa-mir-203a-5p (MIRT784133)
- hsa-mir-212-5p (MIRT784228)
- hsa-mir-346 (MIRT784904)
- hsa-mir-3671 (MIRT785107)
- hsa-mir-3911 (MIRT785425)
- hsa-mir-4288 (MIRT785593)
- hsa-mir-4687-3p (MIRT786409)
- hsa-mir-4762-5p (MIRT786652)
- hsa-mir-4780 (MIRT786749)
- hsa-mir-5087 (MIRT787064)
- hsa-mir-532-3p (MIRT787370)
- hsa-mir-605-5p (MIRT787987)
- hsa-mir-607 (MIRT787998)
- hsa-mir-623 (MIRT788131)
- hsa-mir-632 (MIRT788163)
- hsa-mir-644a (MIRT788180)
- hsa-mir-647 (MIRT788188)
- hsa-mir-6747-3p (MIRT788547)
- hsa-mir-6752-3p (MIRT788560)
- hsa-mir-6778-3p (MIRT788667)
- hsa-mir-6780b-3p (MIRT788705)
- hsa-mir-6791-3p (MIRT788745)
- hsa-mir-6828-3p (MIRT788972)
- hsa-mir-6829-3p (MIRT788975)
- hsa-mir-6836-3p (MIRT789026)
- hsa-mir-6842-3p (MIRT789042)
- hsa-mir-6866-3p (MIRT789182)
- hsa-mir-7106-3p (MIRT789382)
- hsa-mir-7113-3p (MIRT789419)
- hsa-mir-767-3p (MIRT789529)
- hsa-mir-7974 (MIRT789622)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNA1A
- Browse OriGene Inhibitory RNA Products For CACNA1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1A
- genomics-online: shRNA clones - Search results for 101 available CACNA1A gene related products
- Overview of 101 available CACNA1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for CACNA1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1A
- Applied Biological Materials Clones for CACNA1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CACNA1A
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNA1A Gene
Localization for CACNA1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for CACNA1A Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Endoplasmic reticulum (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 16595610 |
| GO:0005737 | cytoplasm | IDA | 16595610 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005891 | voltage-gated calcium channel complex | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for CACNA1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | BMP Pathway |
.44
|
.36
|
| 2 | TCR Signaling (Qiagen) |
.68
|
.39
|
| 3 | Circadian entrainment | ||
| 4 | GABAergic synapse | ||
| 5 | Type II diabetes mellitus | ||
Pathways by source for CACNA1A Gene
3 BioSystems pathways for CACNA1A Gene
6 Reactome pathways for CACNA1A Gene
14 KEGG pathways for CACNA1A Gene
1 GeneGo (Thomson Reuters) pathway for CACNA1A Gene
39 Qiagen pathways for CACNA1A Gene
Interacting Proteins for CACNA1A Gene
Selected Interacting proteins:
O00555-CAC1A_HUMAN
ENSP00000353362
for CACNA1A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CACNA1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IBA,IEA | -- |
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | ISS | -- |
| GO:0007214 | gamma-aminobutyric acid signaling pathway | IEA | -- |
| GO:0007268 | chemical synaptic transmission | IEA,IBA | -- |
No data available for SIGNOR curated interactions for CACNA1A Gene
Drugs & Compounds for CACNA1A Gene
(99) Drugs for CACNA1A Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Pregabalin | Approved, Illicit, Investigational | Pharma | modulator, Target, inhibitor | GABA analog/VDCC ligand;anticonvulsant/anxiolytic analgesic | 383 | |
| Bepridil | Approved, Withdrawn | Pharma | Pore Blocker, blocker, Target, inhibitor | 0 | ||
| Loperamide | Approved | Pharma | Target, inhibitor | 160 | ||
| Nisoldipine | Approved | Pharma | Gating inhibitor, blocker | 5 | ||
| Nitrendipine | Approved, Investigational | Pharma | Inhibition, Pore Blocker | Calcium channel blocker, Ca2+ channel blocker (L-type) | 5 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| omega-agatoxin IVA |
|
Channel blocker |
|
|
||
| omega-agatoxin IVB |
|
Channel blocker |
|
|
||
| omega-conotoxin MVIIC |
|
Channel blocker |
|
|
||
| O-Desmethylverapamil (D-702) |
|
|
||||
| (+-)-Bay K 8644 |
|
71145-03-4 |
|
|
(5) Tocris Compounds for CACNA1A 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 CACNA1A Gene
mRNA/cDNA for CACNA1A Gene
- (5) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (107) Selected AceView cDNA sequences:
- (59) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000360228 8627 bps (uc002mwy.5)
- ENST00000637769 8648 bps
- ENST00000635895 8657 bps
- ENST00000638009 8665 bps
- ENST00000587525 3765 bps (uc060uih.1)
Unigene Clusters for CACNA1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for CACNA1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA1A
- genomics-online: gRNA clones - Search results for 101 available CACNA1A gene related products
- Overview of 101 available CACNA1A gene related products
- Applied Biological Materials CRISPR for CACNA1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA1A
- GenScript: Design CRISPR guide RNA sequences for CACNA1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNA1A
- Browse OriGene Inhibitory RNA Products For CACNA1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1A
- genomics-online: shRNA clones - Search results for 101 available CACNA1A gene related products
- Overview of 101 available CACNA1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for CACNA1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA1A
- Applied Biological Materials Clones for CACNA1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CACNA1A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Inner Cell Mass (Early Embryonic Tissues)
- Brain (Nervous System)
-
Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for CACNA1A Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x16.8) and Brain - Cerebellum (x16.7).
This gene is overexpressed in Frontal cortex (51.9) and Pancreatic juice (14.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CACNA1A Gene:
CACNA1ASOURCE GeneReport for Unigene cluster for CACNA1A Gene:
Hs.501632mRNA Expression by UniProt/SwissProt for CACNA1A Gene:
O00555-CAC1A_HUMAN
Tissue specificity:
Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.
Evidence on tissue expression from TISSUES for CACNA1A Gene
- Nervous system(4.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- mouth
- neck
- pharynx
Thorax:
- esophagus
Abdomen:
- stomach
Limb:
- lower limb
- upper limb
General:
- blood
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CACNA1A
- genomics-online: primer clones - Search results for 101 available CACNA1A gene related products
- Overview of 101 available CACNA1A gene related products
Gene Expression Assay Products
Orthologs for CACNA1A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CACNA1A 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | CACNA1A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CACNA1A 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cacna1a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cacna1a 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CACNA1A 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cacna1a 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cacna1aa 34 |
|
OneToMany | |
| cacna1ab 34 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | cac 35 |
|
|
|
| rice (Oryza sativa) |
Liliopsida | Os.46813 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for CACNA1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- chicken (Gallus gallus)
- 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 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CACNA1A Gene
- ENSEMBL:
- Gene Tree for CACNA1A (if available)
- TreeFam:
- Gene Tree for CACNA1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CACNA1A: view image
Paralogs for CACNA1A Gene
Paralogs for CACNA1A Gene
(12) SIMAP similar genes for CACNA1A Gene using alignment to 12 proteins:
- CAC1A_HUMAN
- B3SZS3_HUMAN
- B5TYJ1_HUMAN
- I3L2V5_HUMAN
- I3L391_HUMAN
- K7EIF8_HUMAN
- K7EKF7_HUMAN
- K7EQ95_HUMAN
- O95387_HUMAN
- Q9NS89_HUMAN
- Q9UHM9_HUMAN
- Q9UN69_HUMAN
Pseudogenes.org Pseudogenes for CACNA1A Gene
Variants for CACNA1A Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1A Gene
- CAC1A_HUMAN-O00555
- The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family.
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1005732031 | uncertain-significance, Epileptic encephalopathy, early infantile, 42, Episodic ataxia type 2 | 13,365,356(-) | T/C | coding_sequence_variant, missense_variant | |
| rs1034627495 | uncertain-significance, Epileptic encephalopathy, early infantile, 42, Episodic ataxia type 2 | 13,231,707(-) | C/T | intron_variant | |
| rs1038705410 | uncertain-significance, Epileptic encephalopathy, early infantile, 42, Episodic ataxia type 2 | 13,298,570(-) | G/T | coding_sequence_variant, missense_variant | |
| rs1057518779 | likely-pathogenic, Cerebellar ataxia, Dysarthria, Intention tremor, Mild global developmental delay, Spastic paraparesis | 13,371,745(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1057519429 | pathogenic, likely-pathogenic, Cerebellar ataxia, Cerebellar atrophy, Intellectual disability | 13,235,666(-) | C/G/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1022e212 | CNV | loss | 25503493 |
| dgv1713n106 | CNV | deletion | 24896259 |
| dgv1714n106 | CNV | tandem duplication | 24896259 |
| dgv3438n100 | CNV | gain | 25217958 |
| esv1689364 | CNV | insertion | 17803354 |
| esv2665817 | CNV | deletion | 23128226 |
| esv2718201 | CNV | deletion | 23290073 |
| esv2718202 | CNV | deletion | 23290073 |
| esv3307138 | CNV | mobile element insertion | 20981092 |
| esv3345059 | CNV | insertion | 20981092 |
| esv34036 | CNV | loss | 18971310 |
| esv3414118 | CNV | duplication | 20981092 |
| esv3429165 | CNV | insertion | 20981092 |
| esv3643722 | CNV | loss | 21293372 |
| esv4302 | CNV | loss | 18987735 |
| esv7746 | CNV | gain | 19470904 |
| nsv1062073 | CNV | gain | 25217958 |
| nsv1071509 | CNV | deletion | 25765185 |
| nsv1072861 | CNV | deletion | 25765185 |
| nsv1125668 | CNV | tandem duplication | 24896259 |
| nsv1126513 | CNV | deletion | 24896259 |
| nsv138156 | CNV | insertion | 16902084 |
| nsv138168 | CNV | deletion | 16902084 |
| nsv510468 | OTHER | sequence alteration | 20534489 |
| nsv520548 | CNV | loss | 19592680 |
| nsv523990 | CNV | loss | 19592680 |
| nsv525967 | CNV | gain | 19592680 |
| nsv819328 | CNV | loss | 19587683 |
| nsv833755 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
1.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.51;
95.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CACNA1A Gene
SNP Genotyping and Copy Number Assay Products
Disorders for CACNA1A Gene
(55) MalaCards diseases for CACNA1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 6 |
|
|
| episodic ataxia, type 2 |
|
|
| epileptic encephalopathy, early infantile, 42 |
|
|
| migraine, familial hemiplegic, 1 |
|
|
| sporadic hemiplegic migraine |
|
|
Search CACNA1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CAC1A_HUMAN- Spinocerebellar ataxia 6 (SCA6) [MIM:183086]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. {ECO:0000269 PubMed:16325861, ECO:0000269 PubMed:20682717, ECO:0000269 PubMed:8988170, ECO:0000269 PubMed:9302278, ECO:0000269 PubMed:9345107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:10408532, ECO:0000269 PubMed:11409427, ECO:0000269 PubMed:11439943, ECO:0000269 PubMed:15032980, ECO:0000269 PubMed:18400034, ECO:0000269 PubMed:24836863, ECO:0000269 PubMed:26716990, ECO:0000269 PubMed:28900389, ECO:0000269 PubMed:8898206}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Episodic ataxia 2 (EA2) [MIM:108500]: An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. {ECO:0000269 PubMed:10987655, ECO:0000269 PubMed:11176968, ECO:0000269 PubMed:11723274, ECO:0000269 PubMed:12420090, ECO:0000269 PubMed:14718690, ECO:0000269 PubMed:15173248, ECO:0000269 PubMed:15293273, ECO:0000269 PubMed:18602318, ECO:0000269 PubMed:19232643, ECO:0000269 PubMed:20129625, ECO:0000269 PubMed:21696515, ECO:0000269 PubMed:8898206, ECO:0000269 PubMed:9302278}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE42 inheritance is autosomal dominant. {ECO:0000269 PubMed:27250579, ECO:0000269 PubMed:27476654}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CACNA1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CACNA1A Gene
Publications for CACNA1A Gene
- Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (PMID: 20129625) Mantuano E … Mariotti C (Journal of the neurological sciences 2010) 3 4 22 44 58
- The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. (PMID: 19429006) D'Onofrio M … Buzzi MG (Neuroscience letters 2009) 3 4 22 44 58
- Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. (PMID: 18602318) Zafeiriou DI … Jurkat-Rott K (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009) 3 4 22 58
- Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PMID: 18513263) Thomsen LL … Olesen J (Cephalalgia : an international journal of headache 2008) 3 22 44 58
- Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 22 44 58
Products for CACNA1A Gene
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- 12 IF (p) Antibodies (anti-mouse)
- 7 WB Antibodies (anti-mouse)
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- Horizon Cell Lines for CACNA1A
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- Boster Bio Antibodies for CACNA1A
- Browse Boster Bio ELISA Kits
Sources for CACNA1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
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- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
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- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
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- (110) ClinicalTrials
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
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- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt