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    CACNA1A calcium voltage-gated channel subunit alpha1 A [ Homo sapiens (human) ]

    Gene ID: 773, updated on 22-Sep-2016
    Official Symbol
    CACNA1Aprovided by HGNC
    Official Full Name
    calcium voltage-gated channel subunit alpha1 Aprovided 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 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    19p13
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC107985288 Neighboring gene immediate early response 2 Neighboring gene uncharacterized LOC105372283 Neighboring gene uncharacterized LOC107985287 Neighboring gene uncharacterized LOC105372284

    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 biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • 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
    calcium channel activity TAS
    Traceable Author Statement
    more info
     
    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
     
    voltage-gated calcium channel activity TAS
    Traceable Author Statement
    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 transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion-regulated 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
     
    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
     
    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, 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
     
    presynapse IEA
    Inferred from Electronic Annotation
    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
    brain calcium channel 1
    brain calcium channel I
    calcium channel, L type, alpha-1 polypeptide
    calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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
      Consensus CDS
      CCDS82301.1
      UniProtKB/Swiss-Prot
      O00555
      UniProtKB/TrEMBL
      Q9NS89
      Related
      ENSP00000490617, OTTHUMP00000282068, ENST00000637432, OTTHUMT00000489428
      Conserved Domains (3) summary
      pfam00520
      Location:15861827
      Ion_trans; Ion transport protein
      pfam08763
      Location:19001974
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:18351898
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. NM_001127221.1NP_001120693.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3

      See identical proteins and their annotated locations for 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
      ENSP00000489913, OTTHUMP00000258017, ENST00000638009, OTTHUMT00000439639
      Conserved Domains (3) summary
      pfam00520
      Location:15831822
      Ion_trans; Ion transport protein
      pfam08763
      Location:18951969
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:18301893
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    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 (4) summary
      pfam00520
      Location:15821821
      Ion_trans; Ion transport protein
      pfam05550
      Location:23462418
      Peptidase_C53; Pestivirus Npro endopeptidase C53
      pfam08763
      Location:18941968
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:18291892
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    4. NM_001174080.1NP_001167551.1  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 5

      See identical proteins and their annotated locations for 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
      Consensus CDS
      CCDS82302.1
      UniProtKB/Swiss-Prot
      O00555
      UniProtKB/TrEMBL
      B5TYJ1
      Related
      ENSP00000490578, OTTHUMP00000282071, ENST00000636549, OTTHUMT00000489432
      Conserved Domains (3) summary
      pfam00520
      Location:15831824
      Ion_trans; Ion transport protein
      pfam08763
      Location:18971971
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:18321895
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    5. NM_023035.2NP_075461.2  voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2

      See identical proteins and their annotated locations for NP_075461.2

      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
      Consensus CDS
      CCDS82300.1
      UniProtKB/Swiss-Prot
      O00555
      UniProtKB/TrEMBL
      A0A087WW63, Q9NS89
      Related
      ENSP00000489829, OTTHUMP00000282069, ENST00000638029, OTTHUMT00000489429
      Conserved Domains (4) summary
      pfam00520
      Location:15861827
      Ion_trans; Ion transport protein
      pfam05550
      Location:23522424
      Peptidase_C53; Pestivirus Npro endopeptidase C53
      pfam08763
      Location:19001974
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:18351898
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

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