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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNA1A Gene

protein-coding   GIFtS: 67
GCID: GC19M013317

Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit


(Previous symbols: CACNL1A4, SCA6, MHP1, MHP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit1 2     EA22
CACNL1A41 2 3 5     FHM2
SCA61 2 5     HPCA2
MHP1 2     Brain Calcium Channel 12
MHP11 2     Calcium Channel, L Type, Alpha-1 Polypeptide2
Brain Calcium Channel I2 3     Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A2
Voltage-Gated Calcium Channel Subunit Alpha Cav2.12 3     CACH43
BI2 3     CACN33
APCA2     Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 43
CAV2.12     

External Ids:    HGNC: 13881   Entrez Gene: 7732   Ensembl: ENSG000001418377   OMIM: 6010115   UniProtKB: O005553   

Export aliases for CACNA1A gene to outside databases

Previous GC identifers: GC19M013650 GC19M013162 GC19M013179 GC19M013178 GC19M012889


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary 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 4-16 to 21-28 in the coding
region is associated with spinocerebellar ataxia 6. (provided by RefSeq, Mar 2010)

GeneCards Summary for CACNA1A Gene: 
CACNA1A (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) is a protein-coding gene. Diseases associated with CACNA1A include hemiplegic migraine, and episodic ataxia, and among its related super-pathways are Type II diabetes mellitus and Synaptic Vesicle Pathway. GO annotations related to this gene include voltage-gated calcium channel activity and syntaxin binding. An important paralog of this gene is CACNA1E.

UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555
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)

summary for CACNA1A Gene:
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1A (Cav2.1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA1A gene promoter:
         TBP   S8   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA1A promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13

CACNA1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M013317:  view genomic region     (about GC identifiers)

Start:
13,317,256 bp from pter      End:
13,734,804 bp from pter
Size:
417,549 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555 (See protein sequence)
Recommended Name: Voltage-dependent P/Q-type calcium channel subunit alpha-1A  
Size: 2505 amino acids; 282365 Da
Subunit: 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
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for CACNA1A:
3BXK (3D)    
Secondary accessions: J3KP41 P78510 P78511 Q16290 Q92690 Q99790 Q99791 Q99792 Q99793 Q9NS88
Q9UDC4
Alternative splicing: 8 isoforms:  O00555-1   O00555-2   O00555-3   O00555-4   O00555-5   O00555-6   O00555-7   O00555-8   

Explore the universe of human proteins at neXtProt for CACNA1A: NX_O00555

Explore proteomics data for CACNA1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00555

  • CACNA1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACNA1A Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000059.3  NP_001120693.1  NP_001120694.1  NP_001167551.1  NP_075461.2  

    ENSEMBL proteins: 
     ENSP00000353362   ENSP00000467729   ENSP00000465598   ENSP00000460092   ENSP00000460276  
     ENSP00000459963   ENSP00000468712   ENSP00000464729  
    Reactome Protein details: O00555
    Human Recombinant Protein Products for CACNA1A: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16595610
    GO:0005737cytoplasm IDA16595610
    GO:0005886plasma membrane TAS--
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0016020membrane ----

    CACNA1A for ontologies           About GeneDecksing



    CACNA1A Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CACN: Calcium channel subunits
    CACN1: Voltage-gated ion channels / Calcium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav2.1 
    Voltage-gated calcium channels

    5 InterPro protein domains:
     IPR027359 K_channel_four-helix_dom
     IPR002077 VDCCAlpha1
     IPR014873 VDCC_a1su_IQ
     IPR005448 VDCC_P/Q_a1su
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry O00555

    ProtoNet protein and cluster: O00555

    2 Blocks protein domains:
    IPB002077 Calcium channel signature
    IPB005448 P/Q-type voltage-dependent calcium channel alpha-1 subunit signature


    UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555
    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
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily


    CACNA1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAC1A_HUMAN, O00555
    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 entry for CACNA1A:
    calcium voltage-gated channel (VDCC),P/Q type,alpha 1A subunit,isoform 4,abundantly expressed in neuronal
    tissue,containing a GCG repeat in 5'utr (exon 47) responsible of cytoplasmic aggregation in the Purkinje
    cell,ortholog of the mouse gene responsible for the phenotypes,tottering (tg) and leaner (tgla)

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005245voltage-gated calcium channel activity ISS--
    GO:0005515protein binding IPI11865310
    GO:0008331high voltage-gated calcium channel activity IEA--
    GO:0019905syntaxin binding IDA8692999
         
    CACNA1A for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CACNA1A:
     Decreased Wnt reporter activit  Increased cell number in G1, s  Increased gamma-H2AX phosphory  Wnt reporter downregulated 

         14 MGI mutant phenotypes (inferred from 30 alleles(MGI details for Cacna1a):
     behavior/neurological  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal  reproductive system  respiratory system 

    CACNA1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CACNA1A: Cacna1atm1Nobs Cacna1atm1Hssh Cacna1atm1Fcr Cacna1atm2.2Maag

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CACNA1A 
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    miRNA
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    hsa-miR-607 hsa-miR-513a-5p hsa-miR-128 hsa-miR-624 hsa-miR-1184 hsa-miR-629* hsa-miR-3148 hsa-miR-27a
    SwitchGear 3'UTR luciferase reporter plasmidCACNA1A 3' UTR sequence
    Inhib. RNA
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    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CACNA1A About   (see all 37)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    3Circadian entrainment
    GABAergic synapse0.53
    Dopaminergic synapse0.37
    Morphine addiction0.53
    Cholinergic synapse0.37
    Retrograde endocannabinoid signaling0.51
    Serotonergic synapse0.33
    Glutamatergic synapse0.39
    4PKC-Theta Pathway
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    5DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CACNA1A
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/39 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1A (see all 39)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    CDK5 Pathway
    PDGF Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1A
        Transcription CREB pathway

    3 BioSystems Pathways for CACNA1A
        Calcium Regulation in the Cardiac Cell
    Type II diabetes mellitus
    Synaptic Vesicle Pathway

    5/6        Reactome Pathways for CACNA1A (see all 6)
        Transmission across Chemical Synapses
    Metabolism
    Regulation of Insulin Secretion
    Integration of energy metabolism
    Neuronal System

    4 PharmGKB Pathways for CACNA1A
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics
    Sympathetic Nerve Pathway (Neuroeffector Junction)
    Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    5/14         Kegg Pathways  (Kegg details for CACNA1A) (see all 14):
        MAPK signaling pathway
    Calcium signaling pathway
    Synaptic vesicle cycle
    Retrograde endocannabinoid signaling
    Glutamatergic synapse


    CACNA1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/186 Interacting proteins for CACNA1A (O005551, 2, 3 ENSP000003533624) via UniProtKB, MINT, STRING, and/or I2D (see all 186)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678701, 3EBI-766279,EBI-348169 I2D: score=1 
    ENSG00000206406P678701, 3EBI-766279,EBI-348169 I2D: score=1 
    ENSG00000224398P678701, 3EBI-766279,EBI-348169 I2D: score=1 
    ENSG00000224774P678701, 3EBI-766279,EBI-348169 I2D: score=1 
    ENSG00000228875P678701, 3EBI-766279,EBI-348169 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/48 biological process terms (GO ID links to tree view) (see all 48):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process IEA--
    GO:0006006glucose metabolic process IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ----

    CACNA1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CACNA1A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    omega-Conotoxin GVIACa2+ channel blocker (N-type)[106375-28-4]
    (+-)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    PregabalinAnticonvulsant. Selectively binds the alpha2delta subunit of voltage-sensitive calcium channels[148553-50-8]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    2 HMDB Compounds for CACNA1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    LoperamideApo-Loperamide (see all 10)53179-11-6--

    4 DrugBank Compounds for CACNA1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PregabalinCI-1008 (see all 2)148553-50-8targetinhibitor17126531 17144644 16899342 17088553 17489948
    Bepridil-- 64706-54-3targetinhibitor17139284 17016423 7565636
    Loperamide-- 53179-11-6targetinhibitor17139284 8183255 17016423
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor19125880

    3 IUPHAR Ligands for CACNA1A (Cav2.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    ω-agatoxin IVA
    Channel blockerNone7--
    ω-conotoxin MVIIC
    Channel blockerNone7--
    ω-agatoxin IVB
    Channel blockerNone7--

    10/12 Novoseek inferred chemical compound relationships for CACNA1A gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetazolamide 76.2 7 16583725 (3), 9600739 (2), 9771787 (1), 10408534 (1)
    calcium 67.6 147 12704197 (5), 8988170 (4), 16927961 (3), 9436352 (2) (see all 99)
    glutamine 51.9 17 10369863 (2), 10964945 (2), 8988170 (2), 17395139 (2) (see all 9)
    potassium 18.1 2 15136697 (1), 15167063 (1)
    4-aminopyridine 5.55 2 15136697 (1)
    valproic acid 3.66 3 16583725 (3)
    lysine 0 1 11409427 (1)
    sodium 0 4 18056581 (1), 16866717 (1), 15167063 (1)
    threonine 0 1 17292920 (1)
    glutamate 0 2 16116111 (1), 12704197 (1)

    Search CenterWatch for drugs/clinical trials and news about CACNA1A / CAC1A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CACNA1A gene (5 alternative transcripts): 
    NM_000068.3  NM_001127221.1  NM_001127222.1  NM_001174080.1  NM_023035.2  

    Unigene Cluster for CACNA1A:

    Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    Hs.501632  [show with all ESTs]
    Unigene Representative Sequence: NM_023035
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360228(uc002mwx.3) ENST00000587525 ENST00000585802 ENST00000573710
    ENST00000586190 ENST00000574822 ENST00000573891 ENST00000593267 ENST00000590205
    ENST00000593160 ENST00000574974 ENST00000587451 ENST00000592864

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    Additional mRNA sequence: 

    AB035726.1 AB035727.2 AF004883.1 AF004884.1 AF100774.1 BC028611.1 EU016197.1 FJ040507.1 
    S76537.1 U06702.1 U79663.1 U79664.1 U79665.1 U79666.1 U79667.1 U79668.1 
    X99897.1 

    4 DOTS entries:

    DT.100750127  DT.101446  DT.102825806  DT.75130950 

    24/107 AceView cDNA sequences (see all 107):

    BQ186097 BQ184672 BX102272 NM_000068 BM509714 BM313132 BC042451 CK822218 
    BM725354 AI590622 NM_023035 U79666 BF726609 CA774694 BX508004 AF004883 
    AA297200 AW593481 U79667 BQ185075 BV204490 BM505306 AA769818 AB035727 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNA1A expression in normal human tissues (normalized intensities)      CACNA1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATTCAAAA
    CACNA1A Expression
    About this image


    CACNA1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
             cerebellum   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Eye (Sensory Organs)
             Human corneal endothelial cells
     
     Endothelium (Cardiovascular System)
             Human corneal endothelial cells
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)

    See CACNA1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA1A

    SOURCE GeneReport for Unigene cluster: Hs.501632

    UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including CACNA1A: 
              Neuronal Ion Channels in human mouse rat
              GABA & Glutamate in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CACNA1A gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1a1 , 5 calcium channel, voltage-dependent, P/Q type, alpha more1, 5 86.91(n)1
    92.68(a)1
      8 (40.95 cM)5
    122861  NM_007578.31  NP_031604.31 
     843884405 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA1A6
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343286.1(268755-434376)
    zebrafish
    (Danio rerio)
    Actinopterygii cacna1ab1 calcium channel, voltage-dependent, P/Q type, alpha more 70.63(n)
    76.33(a)
      569528  XM_692922.5  XP_698014.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta cac1 , 3 courtship behavior voltage-gated
    calcium channel3
    cacophony1
    58(a)3
    60.84(n)1
    63.23(a)1
      321581  NM_001014732.31  NP_001014732.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-21 Protein UNC-2 55.49(n)
    55.55(a)
      180570  NM_001129704.1  NP_001123176.1 
    rice
    (Oryza sativa)
    Liliopsida Os.468132 Oryza sativa (japonica cultivar-group) cDNA clone0 more 70.26(n)    AK110474.1 


    ENSEMBL Gene Tree for CACNA1A (if available)
    TreeFam Gene Tree for CACNA1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1A gene
    CACNA1E2  CACNA1B2  NALCN2  
    14 SIMAP similar genes for CACNA1A using alignment to 13 protein entries:     CAC1A_HUMAN (see all proteins):
    CACNA1B    CACNA1E    SCN5A    SCN3A    SCN4A    CACNA1D
    SCN1A    CACNA1G    CACNA1C    CACNA1S    SCN9A    TPCN1
    CACNA1F    CACNA1H

    CACNA1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555
    Polymorphism: 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


    10/7143 SNPs in CACNA1A are shown (see all 7143)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0636854
    ataxia 6 (SCA6)4--see VAR_0636852 A T mis40--------
    VAR_0673424
    Episodic ataxia 2 (EA2)4--see VAR_0673422 E K mis40--------
    rs1219082351,2,4
    CEpisodic ataxia 2 (EA2)4 untested113257600(-) CCCGAC/TGCCTG 10 R C mis10--------
    rs1219082141,2,4
    CFamilial hemiplegic migraine 1 (FHM1)4 pathogenic113278341(-) CCGTCA/CTCATG 10 I L mis10--------
    rs1219082261,2,4
    CEpisodic ataxia 2 (EA2)4 pathogenic113280003(-) CCGGGA/GAAGCT 10 K E mis10--------
    rs1219082161,2,4
    CEpisodic ataxia 2 (EA2)4 pathogenic113283858(-) TCTCCA/GCCTCT 10 H R mis10--------
    rs1219082331,2,4
    CEpisodic ataxia 2 (EA2)4 pathogenic113305629(-) CATTTC/TCTACG 10 S F mis10--------
    rs1219082321,2,4
    CEpisodic ataxia 2 (EA2)4 untested113305654(-) GCCCCA/C/GGGTAC 10 R G mis11EU 571
    rs1219082371,2,4
    CFamilial hemiplegic migraine 1 (FHM1)4 pathogenic113307805(-) TCACCG/TTGTCC 10 V L mis10--------
    rs1219082271,2,4
    CEpisodic ataxia 2 (EA2)4 pathogenic113309711(-) GAAATG/TCTTCC 10 C F mis10--------

    HapMap Linkage Disequilibrium report for CACNA1A (13317256 - 13567256 bp, first 250kb of CACNA1A)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for CACNA1A (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718201CNV Deletion23290073
    esv2718202CNV Deletion23290073
    esv4302CNV Deletion18987735
    esv2665817CNV Deletion23128226
    esv1689364CNV Insertion17803354
    nsv138156CNV Insertion16902084
    esv271414CNV Insertion20981092
    nsv520548CNV Loss19592680
    nsv138168CNV Loss16902084
    nsv819328CNV Loss19587683


    Human Gene Mutation Database (HGMD): CACNA1A

    Locus Specific Mutation Databases (LSDB): CACNA1A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601011   
    OMIM disorders: 141500  108500  183086  
    UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555
  • 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Familial hemiplegic migraine 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/61 diseases for CACNA1A (see all 61):    About MalaCards
    hemiplegic migraine    episodic ataxia    familial hemiplegic migraine    spinocerebellar ataxia type 6
    episodic ataxia type 2    familial hemiplegic migraine type 1    episodic ataxia with nystagmus    benign paroxysmal torticollis of infancy
    migraine    familial hemiplegic migraine type 2    spinocerebellar ataxia type 12    alternating hemiplegia of childhood
    lambert-eaton myasthenic syndrome    familial dyskinesia and facial myokymia    cluster headache    headache
    spinocerebellar ataxia type 7    myokymia    spinocerebellar degeneration    hemiplegia

    6 diseases from the University of Copenhagen DISEASES database for CACNA1A:
    Migraine     Cerebellar ataxia     Spinocerebellar ataxia     Hemiplegia
    Neuropathy     Myopathy

    CACNA1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/39 Novoseek inferred disease relationships for CACNA1A gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemiplegic migraine familial 98.6 86 12940811 (2), 18976783 (2), 11167897 (2), 12705332 (2) (see all 76)
    episodic ataxia, type 2 98.5 58 11179022 (2), 16325861 (2), 18541804 (2), 12525875 (2) (see all 40)
    spinocerebellar ataxia type 6 98.1 62 10945665 (2), 12707077 (2), 11427317 (2), 9371900 (1) (see all 47)
    migraine hemiplegic 96.7 32 11439943 (4), 14624354 (2), 18513263 (2), 16116111 (2) (see all 22)
    migraine 87.2 82 11803518 (4), 16927961 (4), 15449251 (3), 9741473 (3) (see all 45)
    spinocerebellar ataxias 86.1 7 16876337 (1), 16325861 (1), 19953482 (1), 10369884 (1) (see all 7)
    sca12 81.3 7 19235102 (2), 17516099 (1), 19953482 (1), 17420317 (1) (see all 5)
    episodic ataxia, type 1 80.9 2 18180645 (1), 18976783 (1)
    drpla 80 20 12614315 (3), 9613852 (3), 10453742 (3), 17650485 (2) (see all 10)
    adca iii 78.4 5 9559993 (4), 10051016 (1)

    GeneTests: CACNA1A
    GeneReviews: CACNA1A
    Genetic Association Database (GAD): CACNA1A
    Human Genome Epidemiology (HuGE) Navigator: CACNA1A (23 documents)

    Export disorders for CACNA1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACNA1A gene, integrated from 9 sources (see all 381):
    (articles sorted by number of sources associating them with CACNA1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel and recurrent CACNA1A gene mu tations in fifteen patients with episodic ataxia type 2. (PubMed id 20129625)1, 2, 4, 9 Mantuano E....Mariotti C. (2010)
    2. The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. (PubMed id 19429006)1, 2, 4, 9 D'Onofrio M....Buzzi M.G. (2009)
    3. Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility. (PubMed id 11803518)1, 4, 9 Lea R.A....Griffiths L.R. (2001)
    4. Missense CACNA1A mutation causing episodic ataxia type 2. (PubMed id 11176968)1, 2, 9 Denier C....Tournier-Lasserve E. (2001)
    5. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PubMed id 18513263)1, 4, 9 Thomsen L....Olesen J. (2008)
    6. Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura. (PubMed id 11320173)1, 4, 9 Terwindt G.M....Ferrari M.D. (2001)
    7. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. (PubMed id 9302278)1, 2, 9 Jodice C.... Frontali M. (1997)
    8. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. (PubMed id 16325861)1, 2, 9 Tonelli A....Bassi M.T. (2006)
    9. Novel splice site CACNA1A mutation causing episodic ataxia type 2. (PubMed id 14530926)1, 4, 9 Kaunisto M.A....Wessman M. (2004)
    10. CACNA1A gene polymorphisms in cluster headache. (PubMed id 11843866)1, 4, 9 Sjostrand C....Hillert J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 773 HGNC: 1388 AceView: CACNA1A Ensembl:ENSG00000141837 euGenes: HUgn773
    ECgene: CACNA1A Kegg: 773 H-InvDB: CACNA1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNA1A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CACNA1A gene:
    Search GeneIP for patents involving CACNA1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    transforming growth factor, beta 1
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