Display Settings:

Format

Send to:

Choose Destination

CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [ Homo sapiens (human) ]

Gene ID: 773, updated on 26-Nov-2014
Official Symbol
CACNA1Aprovided by HGNC
Official Full Name
calcium channel, voltage-dependent, P/Q type, alpha 1A subunitprovided by HGNC
Primary source
HGNC:HGNC:1388
See related
Ensembl:ENSG00000141837; HPRD:03004; MIM:601011; Vega:OTTHUMG00000044590
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BI; EA2; FHM; MHP; APCA; HPCA; MHP1; SCA6; CAV2.1; CACNL1A4
Summary
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]
See CACNA1A in Epigenomics, MapViewer
Location:
19p13
Exon count:
49
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (13206442..13506460, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13317256..13617274, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 42 Neighboring gene immediate early response 2 Neighboring gene uncharacterized LOC100507353 Neighboring gene coiled-coil domain containing 130

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
  • Dopaminergic synapse, organism-specific biosystem (from KEGG)
    Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Dopaminergic synapse, conserved biosystem (from KEGG)
    Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
    Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
  • Long-term depression, organism-specific biosystem (from KEGG)
    Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • Long-term depression, conserved biosystem (from KEGG)
    Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
    Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Serotonergic synapse, organism-specific biosystem (from KEGG)
    Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Taste transduction, organism-specific biosystem (from KEGG)
    Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
  • Taste transduction, conserved biosystem (from KEGG)
    Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
    Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
    Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • Type II diabetes mellitus, conserved biosystem (from KEGG)
    Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin binding IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
behavioral response to pain IEA
Inferred from Electronic Annotation
more info
 
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion-dependent exocytosis IEA
Inferred from Electronic Annotation
more info
 
calcium ion-dependent exocytosis of neurotransmitter IEA
Inferred from Electronic Annotation
more info
 
cell death IDA
Inferred from Direct Assay
more info
PubMed 
cell growth IEA
Inferred from Electronic Annotation
more info
 
cellular chloride ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cerebellar molecular layer development IEA
Inferred from Electronic Annotation
more info
 
cerebellum maturation IEA
Inferred from Electronic Annotation
more info
 
dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
 
gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization TAS
Traceable Author Statement
more info
 
membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
musculoskeletal movement, spinal reflex action IEA
Inferred from Electronic Annotation
more info
 
negative regulation of hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor clustering IEA
Inferred from Electronic Annotation
more info
 
regulation of acetylcholine secretion, neurotransmission IEA
Inferred from Electronic Annotation
more info
 
regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion-dependent exocytosis IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
rhythmic synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
sulfur amino acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
vestibular nucleus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
voltage-dependent P/Q-type calcium channel subunit alpha-1A
Names
voltage-dependent P/Q-type calcium channel subunit alpha-1A
brain calcium channel 1
brain calcium channel I
calcium channel, L type, alpha-1 polypeptide
voltage-gated calcium channel subunit alpha Cav2.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011569.1 

    Range
    5001..305019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_7

mRNA and Protein(s)

  1. NM_000068.3NP_000059.3  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1

    See proteins identical to NP_000059.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 2. The resulting isoform (1) has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
    Source sequence(s)
    AB035726, AC011446, AF004883, BQ340521
    UniProtKB/Swiss-Prot
    O00555
    UniProtKB/TrEMBL
    Q9NS89
    Conserved Domains (2) summary
    pfam08763
    Location:19541985
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:16031815
    Ion_trans; Ion transport protein
  2. NM_001127221.1NP_001120693.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3

    See proteins identical to NP_001120693.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites, lacks two alternate exons, and includes an additional exon, compared to variant 2. The resulting isoform (3) differs at 3 internal regions and has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
    Source sequence(s)
    AC011446, AC124224, AF004883, X99897
    Consensus CDS
    CCDS45999.1
    UniProtKB/Swiss-Prot
    O00555
    Related
    ENSP00000460092, OTTHUMP00000258017, ENST00000573710, OTTHUMT00000439639
    Conserved Domains (2) summary
    pfam08763
    Location:19491980
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:16001810
    Ion_trans; Ion transport protein
  3. NM_001127222.1NP_001120694.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses two alternate in-frame splice sites and lacks an alternate in-frame exon, compared to variant 2. The resulting isoform (4) differs at three internal regions, compared to isoform 2, and includes the polyglutamine tract near the C-terminus.
    Source sequence(s)
    AB035727, AC011446, AC022436, AC026805, AC124224, AF004883
    Consensus CDS
    CCDS45998.1
    UniProtKB/Swiss-Prot
    O00555
    Related
    ENSP00000353362, OTTHUMP00000042101, ENST00000360228, OTTHUMT00000104062
    Conserved Domains (3) summary
    pfam08763
    Location:19481979
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam11179
    Location:22372375
    DUF2967; Protein of unknown function (DUF2967)
    pfam00520
    Location:15991809
    Ion_trans; Ion transport protein
  4. NM_001174080.1NP_001167551.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 5

    See proteins identical to NP_001167551.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate splice sites, compared to variant 2. The resulting isoform (5) lacks an internal 3-aa segment and has a shorter and distinct C-terminus that does not include the polyglutamine tract, compared to isoform 2.
    Source sequence(s)
    AC011446, AF004883, FJ040507
    UniProtKB/TrEMBL
    B5TYJ1
    UniProtKB/Swiss-Prot
    O00555
    Conserved Domains (2) summary
    pfam08763
    Location:19511982
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:16001812
    Ion_trans; Ion transport protein
  5. NM_023035.2NP_075461.2  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). This variant includes a (CAG)n-repeat in the coding region, resulting in a polyglutamine tract near the C-terminus.
    Source sequence(s)
    AB035726, AC011446, AF004884, BQ340521
    UniProtKB/TrEMBL
    A0A087WW63
    UniProtKB/Swiss-Prot
    O00555
    UniProtKB/TrEMBL
    Q9NS89
    Related
    ENSP00000479983, ENST00000614285
    Conserved Domains (3) summary
    pfam08763
    Location:19541985
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam11179
    Location:22432381
    DUF2967; Protein of unknown function (DUF2967)
    pfam00520
    Location:16031815
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    12889634..13189171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    13206442..13506460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    13318256..13618198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)