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    CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit [ Homo sapiens ]

    Gene ID: 775, updated on 19-May-2012
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    Summary

    Official Symbol
    CACNA1Cprovided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, L type, alpha 1C subunitprovided by HGNC
    Primary source
    HGNC:1390
    See related
    Ensembl:ENSG00000151067; HPRD:00246; MIM:114205; Vega:OTTHUMG00000150243
    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
    TS; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1; MGC120730
    Summary
    This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    12p13.3
    Sequence :
    Chromosome: 12; NC_000012.11 (2162416..2807115)
    See CACNA1C in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100271702 Neighboring gene DCP1 decapping enzyme homolog B (S. cerevisiae) Neighboring gene uncharacterized LOC100652846 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium channel, voltage-dependent, L type, alpha 1C subunit pseudogene Neighboring gene IQ motif and Sec7 domain 3 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Single-channel monitoring of reversible L-type Ca(2+) channel Ca(V)α(1)-Ca(V)β subunit interaction. Jangsangthong W, et al. Biophys J, 2011 Dec 7. PMID 22261054.
    2. Protein kinase D regulates the human cardiac L-type voltage-gated calcium channel through serine 1884. Aita Y, et al. FEBS Lett, 2011 Dec 15. PMID 22100296.
    3. The association of genetic variation in CACNA1C with structure and function of a frontotemporal system. Wang F, et al. Bipolar Disord, 2011 Nov-Dec. PMID 22085483.
    4. Splice variant specific modulation of CaV1.2 calcium channel by galectin-1 regulates arterial constriction. Wang J, et al. Circ Res, 2011 Nov 11. PMID 21998324.
    5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Sklar P, et al. Nat Genet, 2011 Sep 18. PMID 21926972.

    See all (155) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. HEK293alpha(1C) cells expressing the Ca(V)1.2 subunit were transiently transfected with Ca(V)alpha(2)delta1 alone or with Ca(V)beta(1a), Ca(V)beta(2b)showed increased whole-cell current and shifted the voltage dependence of activation and inactivation ...
      Title: Single-channel monitoring of reversible L-type Ca(2+) channel Ca(V)α(1)-Ca(V)β subunit interaction.
    2. This study support for the bipolar disorder risk variant SNP rs1006737 in CACNA1C.
      Title: Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
    3. Following deletion of both Cav1.2 alleles in transgenic mice, results are consistent with an L-type calcium channel biosynthesis model in which one or more saturated steps act to buffer changes in both total Cav1.2 protein and L-type current expression.
      Title: Robust L-type calcium current expression following heterozygous knockout of the Cav1.2 gene in adult mouse heart.
    4. This study suggested that influence of CACNA1C variation on corticolimbic structure and function may be a mechanism contributing to the neural circuitry of BD.
      Title: The association of genetic variation in CACNA1C with structure and function of a frontotemporal system.
    5. In the 1st formal evidence of a disease-specific CACNA1C genotype effect on brain function, the rs1006737 polymorphism impacts vlPFC activation during fear processing in bipolar disorder carriers of this allele but not their unaffected relatives.
      Title: The impact of the CACNA1C gene polymorphism on frontolimbic function in bipolar disorder.
    6. Timothy syndrome mutations in CaV1.2 channels, display non-inactivating calcium current as well as higher plasma membrane expression of CaV1.2. [review]
      Title: Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
    7. serine 1884 is essential for the regulation of hCaV1.2 by PKD
      Title: Protein kinase D regulates the human cardiac L-type voltage-gated calcium channel through serine 1884.
    8. Calmodulin overexpression does not alter Cav1.2 function or oligomerization state.
      Title: Calmodulin overexpression does not alter Cav1.2 function or oligomerization state.
    9. is glutathionylated during oxidative stress in ischemic heart
      Title: Ca(v)1.2 calcium channel is glutathionylated during oxidative stress in guinea pig and ischemic human heart.
    10. Gal-1 regulates I(Ca,L) by decreasing the surface expression of Ca(V)1.2 channels in a splice variant selective manner. This may modulate vasoconstriction. Gal-1 binds the I-II loop only in the absence of alternatively spliced exon 9*.
      Title: Splice variant specific modulation of CaV1.2 calcium channel by galectin-1 regulates arterial constriction.
    Submit: New GeneRIF Correction See all (105)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.

    Brugada syndrome 3

    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.

    Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

    Timothy syndrome

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Timothy syndrome is a multisystem disorder characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of the same gene. Cardiac findings include a rate-corrected QT interval of between 480 ms and 700 ms and congenital heart defects (patent ductus arteriosus, patent foramen ovale, ventricular septal defect, tetralogy of Fallot, hypertrophic cardiomyopathy). Hand/foot findings are unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three. Facial findings include flat nasal bridge, low-set ears, thin upper lip, and round face. Neuropsychiatric involvement includes global developmental delays and autism spectrum disorders. Ventricular tachyarrhythmia is the leading cause of death, followed by infection and complications of intractable hypoglycemia. Average age of death is 2.5 years.
    Diagnosis Testing
    Timothy syndrome is diagnosed by clinical features and by the presence of one of three known mutations in CACNA1C, the gene encoding the CaV1.2 calcium channel. Molecular genetic testing is available on a clinical basis.
    Genetic Counseling
    Timothy syndrome types 1 and 2 are inherited in an autosomal dominant manner. Timothy syndrome usually results from a de novo mutation. The risk to sibs of a proband is small; however, because parental germline mosaicism occurs, the sibs of a proband may be at increased risk of inheriting a CACNA1C mutation. Prenatal testing is available for pregnancies at increased risk in families in which the disease-causing mutation has been identified.
    References
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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000710.4 NP_002065.1 GNB1    BIND  PubMed Cav1.2 interacts with G-beta-1. This interaction was modeled on a demonstrated interaction between Cav1.2 and G-beta-1, both from unspecified species. 
    Q13936 Q9NZU7 CABP1    HPRD  PubMed  
    Q13936 P54284 CACNB3    HPRD  PubMed  
    Q13936 P62873 GNB1    HPRD  PubMed  
    Q13936 P35813 PPM1A    HPRD  PubMed  
    Q13936 P17612 PRKACA    HPRD  PubMed  
    Q13936 Q86UR5 RIMS1    HPRD  PubMed  
    Q13936 Q92736 RYR2    HPRD  PubMed  
    Q13936 P30626 SRI    HPRD  PubMed  
    BioGRID:107229 BioGRID:114863 CABP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107229 BioGRID:107238 CACNB3    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107229 BioGRID:122559 DERL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107229 BioGRID:115106 HDAC4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107229 BioGRID:111125 PCBD1    BioGRID  PubMed Two-hybrid 
    BioGRID:107229 BioGRID:112174 RYR2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107229 BioGRID:116983 SIRT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107229 BioGRID:112595 SRI    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107229 BioGRID:115501 TRIM13    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107229 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107229 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Amphetamine addiction, organism-specific biosystem (from KEGG)
      Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Amphetamine addiction, conserved biosystem (from KEGG)
      Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • 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...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • 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...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • 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...
    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
      GnRH signaling pathway, conserved biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Inhibition of Insulin Secretion by Adrenaline/Noradrenaline, organism-specific biosystem (from REACTOME)
      Inhibition of Insulin Secretion by Adrenaline/Noradrenaline, organism-specific biosystemThe catecholamines adrenaline (epinephrine) and noradrenaline (norepinephrine) inhibit insulin secretion from pancreatic beta cells. Four effects are seen in the cells:1. Inhibition of exocytosis of ...
    • 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 potentiation, organism-specific biosystem (from KEGG)
      Long-term potentiation, organism-specific biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • Long-term potentiation, conserved biosystem (from KEGG)
      Long-term potentiation, conserved biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • 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...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Nicotine Activity on Chromaffin Cells, organism-specific biosystem (from WikiPathways)
      Nicotine Activity on Chromaffin Cells, organism-specific biosystemNicotine is an alkaloid found in tobacco plants. It is a substance that acts as a stimulant in humans and is one of the main factors responsible for tobacco dependence. When nicotine enters the body,...
    • 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...
    • 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, 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...
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    calcium ion transport into cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 
    elevation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of calcium ion transport via voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    integral to membrane 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
    		  
    postsynaptic density IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    Names
    voltage-dependent L-type calcium channel subunit alpha-1C
    DHPR, alpha-1 subunit
    calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
    calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
    voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*
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    NCBI Reference Sequences (RefSeq)

    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_008801.2 RefSeqGene

      Range
      87465..732164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_334

    mRNA and Protein(s)

    1. NM_000719.6 → NP_000710.5  voltage-dependent L-type calcium channel subunit alpha-1C isoform 18

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), also referred to as HLCC70, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 18), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34810
      Consensus CDS
      CCDS44794.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382563, OTTHUMP00000196730, ENST00000399655, OTTHUMT00000317019
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 487
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel

    2. NM_001129827.1 → NP_001123299.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also referred to as HLCC90, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34821
      Consensus CDS
      CCDS44788.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000266376, OTTHUMP00000196744, ENST00000347598, OTTHUMT00000317035
      Conserved Domains (3) summary
      cl07394
      Location:1659 – 1690
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1273 – 1523
      Blast Score: 473
      Ion_trans; Ion transport protein
      pfam08016
      Location:1266 – 1528
      Blast Score: 144
      PKD_channel; Polycystin cation channel

    3. NM_001129829.1 → NP_001123301.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also referred to as HLCC126, lacks three alternate in-frame exons and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AY830713
      Consensus CDS
      CCDS44792.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000341092, OTTHUMP00000196748, ENST00000344100, OTTHUMT00000317040
      Conserved Domains (3) summary
      cl07394
      Location:1652 – 1683
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1497
      Blast Score: 469
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1502
      Blast Score: 137
      PKD_channel; Polycystin cation channel

    4. NM_001129830.1 → NP_001123302.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also referred to as HLCC85, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34822
      Consensus CDS
      CCDS53736.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000329877, OTTHUMP00000196750, ENST00000327702, OTTHUMT00000317042
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 492
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 149
      PKD_channel; Polycystin cation channel

    5. NM_001129831.1 → NP_001123303.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), also referred to as HLCC88, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34819
      Consensus CDS
      CCDS44790.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382547, OTTHUMP00000196733, ENST00000399638, OTTHUMT00000317022
      Conserved Domains (3) summary
      cl07394
      Location:1639 – 1670
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1503
      Blast Score: 476
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1508
      Blast Score: 145
      PKD_channel; Polycystin cation channel

    6. NM_001129832.1 → NP_001123304.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), also referred to as HLCC87, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 6), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34818
      Consensus CDS
      CCDS44789.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382515, OTTHUMP00000196746, ENST00000399606, OTTHUMT00000317038
      Conserved Domains (3) summary
      cl07394
      Location:1631 – 1662
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1273 – 1495
      Blast Score: 484
      Ion_trans; Ion transport protein
      pfam08016
      Location:1266 – 1500
      Blast Score: 147
      PKD_channel; Polycystin cation channel

    7. NM_001129833.1 → NP_001123305.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), also referred to has HLCC127, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 7), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AY830712
      Consensus CDS
      CCDS53735.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000385724, OTTHUMP00000238479, ENST00000402845, OTTHUMT00000399108
      Conserved Domains (3) summary
      cl07394
      Location:1630 – 1661
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 509
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 142
      PKD_channel; Polycystin cation channel

    8. NM_001129834.1 → NP_001123306.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), also referred to as HLCC71, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 8), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34811
      Consensus CDS
      CCDS44793.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382530, OTTHUMP00000196735, ENST00000399621, OTTHUMT00000317024
      Conserved Domains (3) summary
      cl07394
      Location:1630 – 1661
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 490
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel

    9. NM_001129835.1 → NP_001123307.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), also referred to has HLCC72, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 9), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z74996
      Consensus CDS
      CCDS44799.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382546, OTTHUMP00000196736, ENST00000399637, OTTHUMT00000317025
      Conserved Domains (3) summary
      cl07394
      Location:1630 – 1661
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 492
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 149
      PKD_channel; Polycystin cation channel

    10. NM_001129836.1 → NP_001123308.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), also referred to has HLCC89, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 10), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34820
      Consensus CDS
      CCDS44797.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382537, OTTHUMP00000196749, ENST00000399629, OTTHUMT00000317041
      Conserved Domains (3) summary
      cl07394
      Location:1628 – 1659
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1492
      Blast Score: 487
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1497
      Blast Score: 148
      PKD_channel; Polycystin cation channel

    11. NM_001129837.1 → NP_001123309.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), also referred to as HLCC73, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 11), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34812
      Consensus CDS
      CCDS44795.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382504, OTTHUMP00000196731, ENST00000399595, OTTHUMT00000317020
      Conserved Domains (3) summary
      cl07394
      Location:1619 – 1650
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1464
      Blast Score: 499
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1469
      Blast Score: 149
      PKD_channel; Polycystin cation channel

    12. NM_001129838.1 → NP_001123310.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), also referred to has HLCC74, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 12), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34813
      Consensus CDS
      CCDS44801.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382500, OTTHUMP00000196737, ENST00000399591, OTTHUMT00000317026
      Conserved Domains (3) summary
      cl07394
      Location:1619 – 1650
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1464
      Blast Score: 501
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1469
      Blast Score: 149
      PKD_channel; Polycystin cation channel

    13. NM_001129839.1 → NP_001123311.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), also referred to has HLCC125, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 13), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AY830711
      Consensus CDS
      CCDS44796.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382557, OTTHUMP00000196751, ENST00000399649, OTTHUMT00000317043
      Conserved Domains (3) summary
      cl07394
      Location:1617 – 1648
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1462
      Blast Score: 499
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1467
      Blast Score: 147
      PKD_channel; Polycystin cation channel

    14. NM_001129840.1 → NP_001123312.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), also referred to has HLCC105, lacks four alternate in-frame exons and contains an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 14), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AJ224873
      Consensus CDS
      CCDS44787.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382549, OTTHUMP00000196739, ENST00000399641, OTTHUMT00000317028
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 489
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel

    15. NM_001129841.1 → NP_001123313.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), also referred to has HLCC69, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 15), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34809
      Consensus CDS
      CCDS44798.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382552, OTTHUMP00000196732, ENST00000399644, OTTHUMT00000317021
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 508
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 142
      PKD_channel; Polycystin cation channel

    16. NM_001129842.1 → NP_001123314.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 16

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), also referred to has HLCC78, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 16), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34816
      Consensus CDS
      CCDS44791.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382506, OTTHUMP00000196734, ENST00000399597, OTTHUMT00000317023
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 506
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 141
      PKD_channel; Polycystin cation channel

    17. NM_001129843.1 → NP_001123315.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 17

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), also referred to has HLCC77, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 17), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34815
      Consensus CDS
      CCDS44800.1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382510, OTTHUMP00000196747, ENST00000399601, OTTHUMT00000317039
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 489
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 148
      PKD_channel; Polycystin cation channel

    18. NM_001129844.1 → NP_001123316.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 19

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19) lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 19), compared to isoform 1.
      Source sequence(s)
      AC005342, AC005866, AC007618, BC146846
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      cl07394
      Location:1608 – 1639
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1250 – 1472
      Blast Score: 506
      Ion_trans; Ion transport protein
      pfam08016
      Location:1243 – 1477
      Blast Score: 141
      PKD_channel; Polycystin cation channel

    19. NM_001129846.1 → NP_001123318.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 20

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), also referred to as HLCC76, lacks four alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 20), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, Z34814
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000437936, OTTHUMP00000238277, ENST00000480911, OTTHUMT00000317036
      Conserved Domains (3) summary
      cl07394
      Location:1600 – 1631
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1464
      Blast Score: 498
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1469
      Blast Score: 148
      PKD_channel; Polycystin cation channel

    20. NM_001167623.1 → NP_001161095.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 21

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21) lacks four alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 21), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AF465484, L29536, Z34816
      Consensus CDS
      CCDS53734.1
      UniProtKB/TrEMBL
      E9PDJ1
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382512, OTTHUMP00000196740, ENST00000399603, OTTHUMT00000317029
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 506
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 141
      PKD_channel; Polycystin cation channel

    21. NM_001167624.1 → NP_001161096.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 22

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22) lacks two alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 22), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AF465484, L29534, Z34816
      Consensus CDS
      CCDS53733.1
      UniProtKB/TrEMBL
      E9PDJ0
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000382526, OTTHUMP00000196742, ENST00000399617, OTTHUMT00000317031
      Conserved Domains (3) summary
      cl07394
      Location:1611 – 1642
      Blast Score: 173
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1475
      Blast Score: 509
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1480
      Blast Score: 142
      PKD_channel; Polycystin cation channel

    22. NM_001167625.1 → NP_001161097.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 23

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23) lacks five alternate in-frame exons and contains another two alternate in-frame exons compared to variant 1, resulting in a shorter protein (isoform 23), compared to isoform 1.
      Source sequence(s)
      AC005342, AC007618, AF465484, L29529, Z34814
      UniProtKB/Swiss-Prot
      Q13936
      Related
      ENSP00000323129, ENST00000322367
      Conserved Domains (3) summary
      cl07394
      Location:1600 – 1631
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1253 – 1464
      Blast Score: 501
      Ion_trans; Ion transport protein
      pfam08016
      Location:1246 – 1469
      Blast Score: 149
      PKD_channel; Polycystin cation channel

    23. NM_199460.2 → NP_955630.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also referred to as HFCC, encodes the longest isoform (1).
      Source sequence(s)
      AC007618, M92269
      UniProtKB/Swiss-Prot
      Q13936
      Conserved Domains (3) summary
      cl07394
      Location:1659 – 1690
      Blast Score: 174
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1273 – 1523
      Blast Score: 476
      Ion_trans; Ion transport protein
      pfam08016
      Location:1266 – 1528
      Blast Score: 145
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      2162416..2807115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      2016425..2664566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005293.1 (2..143125) None
    genomic AC005342.1 (177565..220255) None
    genomic AC005344.1 (306..153835) None
    genomic AC005414.2 (203..109369) None
    genomic AC005866.4 None
    genomic AC006051.1 None
    genomic AC007618.21 (773..40875) None
    genomic CH471116.2 EAW88895.1
      EAW88896.1
      EAW88897.1
      EAW88898.1
      EAW88899.1
      EAW88900.1
      EAW88901.1
      EAW88902.1
      EAW88903.1
      EAW88904.1
      EAW88905.1
      EAW88906.1
      EAW88907.1
      EAW88908.1
      EAW88909.1
      EAW88910.1
    genomic L04568.1 AAA02500.2
    genomic M61130.1 AAA58409.1
    genomic M91370.1 AAA74590.1
    genomic M92269.1 AAA17030.1
    genomic Z26257.1 None
    genomic Z26308.1 None
    mRNA AB209016.1 BAD92253.1
    mRNA AF070589.1 AAC28649.1
    mRNA AF465484.1 AAM70049.1
    mRNA AJ224873.1 CAA12174.1
    mRNA AJ536834.1 CAD61168.1
    mRNA AJ537510.1 CAD61169.1
    mRNA AK092125.1 None
    mRNA AK302698.1 BAH13781.1
    mRNA AK308652.1 None
    mRNA AK309111.1 None
    mRNA AY129012.1 AAM98755.1
    mRNA AY562395.1 AAT67986.1
    mRNA AY562396.1 AAT67987.1
    mRNA AY830711.1 AAX37354.1
    mRNA AY830712.1 AAX37355.1
    mRNA AY830713.1 AAX37356.1
    mRNA BC093695.1 AAH93695.1
    mRNA BC146846.1 AAI46847.1
    mRNA L29529.1 AAA51899.1
    mRNA L29534.1 AAA51900.1
    mRNA L29536.1 AAA51901.1
    mRNA M57971.1 AAA62832.1
    mRNA M57972.1 AAB59461.1
    mRNA Z26294.1 CAA81218.1
    mRNA Z26295.1 CAA81219.1
    mRNA Z34809.1 CAA84340.1
    mRNA Z34810.1 CAA84341.1
    mRNA Z34811.1 CAA84342.1
    mRNA Z34812.1 CAA84343.1
    mRNA Z34813.1 CAA84344.1
    mRNA Z34814.1 CAA84345.1
    mRNA Z34815.1 CAA84346.1
    mRNA Z34816.1 CAA84347.1
    mRNA Z34817.1 CAA84348.1
    mRNA Z34818.1 CAA84349.1
    mRNA Z34819.1 CAA84350.1
    mRNA Z34820.1 CAA84351.1
    mRNA Z34821.1 CAA84352.1
    mRNA Z34822.1 CAA84353.1
    mRNA Z74996.1 CAA99284.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95234 GenPept UniProtKB/TrEMBL:O95234
    Q13936.4 GenPept UniProtKB/Swiss-Prot:Q13936
    Q4G0H8 GenPept UniProtKB/TrEMBL:Q4G0H8
    Q59GU3 GenPept UniProtKB/TrEMBL:Q59GU3
    Q5V9X8 GenPept UniProtKB/TrEMBL:Q5V9X8
    Q5V9X9 GenPept UniProtKB/TrEMBL:Q5V9X9
    Q6YL47 GenPept UniProtKB/TrEMBL:Q6YL47
    Q86XX0 GenPept UniProtKB/TrEMBL:Q86XX0
    Q86XX1 GenPept UniProtKB/TrEMBL:Q86XX1
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
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      Supplemental Content

      Table of contents

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