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CACNA1C calcium voltage-gated channel subunit alpha1 C [ Homo sapiens (human) ]

Gene ID: 775, updated on 19-Aug-2018

Summary

Official Symbol
CACNA1Cprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Cprovided by HGNC
Primary source
HGNC:HGNC:1390
See related
Ensembl:ENSG00000151067 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; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1
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. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Expression
Broad expression in endometrium (RPKM 5.2), heart (RPKM 4.5) and 19 other tissues See more
Orthologs

Genomic context

See CACNA1C in Genome Data Viewer
Location:
12p13.33
Exon count:
56
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (1969552..2697949)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2079952..2807115)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 4 Neighboring gene uncharacterized LOC112268103 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene CACNA1C intronic transcript 1 Neighboring gene decapping mRNA 1B Neighboring gene CACNA1C intronic transcript 2 Neighboring gene uncharacterized LOC107984131 Neighboring gene CACNA1C antisense RNA 4 Neighboring gene CACNA1C intronic transcript 3 Neighboring gene CACNA1C antisense RNA 2 Neighboring gene CACNA1C antisense RNA 1 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium voltage-gated channel subunit alpha1 C pseudogene Neighboring gene long intergenic non-protein coding RNA 2371 Neighboring gene ITFG2 antisense RNA 1 Neighboring gene IQ motif and Sec7 domain 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Brugada syndrome 3
MedGen: C2678478 OMIM: 611875 GeneReviews: Brugada Syndrome
Compare labs
Timothy syndrome
MedGen: C1832916 OMIM: 601005 GeneReviews: Long QT Syndrome, Timothy Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-03-24)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2016-03-24)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
NHGRI GWA Catalog
A genome-wide association study of sleep habits and insomnia.
NHGRI GWA Catalog
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
NHGRI GWA Catalog
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
NHGRI GWA Catalog
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adrenaline,noradrenaline inhibits insulin secretion, organism-specific biosystem (from REACTOME)
    Adrenaline,noradrenaline inhibits insulin secretion, 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 ...
  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
    Aldosterone synthesis and secretion, organism-specific biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
    Aldosterone synthesis and secretion, conserved biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • 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...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
  • 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, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • 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 conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • 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...
  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • 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...
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • 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...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • 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,...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
    Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
  • 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...
  • Renin secretion, organism-specific biosystem (from KEGG)
    Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Renin secretion, conserved biosystem (from KEGG)
    Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • 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...
  • 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...
  • 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...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120730, DKFZp761C1547

Gene Ontology Provided by GOA

Process Evidence Code Pubs
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion transmembrane transport via high voltage-gated calcium channel IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transport into cytosol TAS
Traceable Author Statement
more info
PubMed 
calcium-mediated signaling using extracellular calcium source TAS
Traceable Author Statement
more info
PubMed 
camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
PubMed 
embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
immune system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
Traceable Author Statement
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
regulation of ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
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 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
voltage-dependent L-type calcium channel subunit alpha-1C
Names
DHPR, alpha-1 subunit
calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
voltage-dependent L-type Ca2+ channel alpha 1 subunit
voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*

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_000719.6NP_000710.5  voltage-dependent L-type calcium channel subunit alpha-1C isoform 18

    See identical proteins and their annotated locations for NP_000710.5

    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
    ENSP00000382563.1, OTTHUMP00000196730, ENST00000399655.5, OTTHUMT00000317019
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  2. NM_001129827.1NP_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. This isoform (2) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34821
    Consensus CDS
    CCDS44788.1
    UniProtKB/Swiss-Prot
    Q13936
    Related
    ENSP00000266376.6, OTTHUMP00000196744, ENST00000347598.8, OTTHUMT00000317035
    Conserved Domains (5) summary
    pfam00520
    Location:12561535
    Ion_trans; Ion transport protein
    pfam08763
    Location:16081679
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:17022134
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15431606
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  3. NM_001129829.1NP_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
    ENSP00000341092.3, OTTHUMP00000196748, ENST00000344100.7, OTTHUMT00000317040
    Conserved Domains (5) summary
    pfam00520
    Location:141416
    Ion_trans; Ion transport protein
    pfam08763
    Location:15821672
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16952127
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15171580
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  4. NM_001129830.2NP_001123302.2  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)
    AC007618, AF465484, AK309111, KF455578, Z34822
    Consensus CDS
    CCDS53736.1
    UniProtKB/Swiss-Prot
    Q13936
    UniProtKB/TrEMBL
    A0A0A0MR67
    Related
    ENSP00000329877.7, OTTHUMP00000196750, ENST00000327702.11, OTTHUMT00000317042
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542121
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  5. NM_001129831.1NP_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. This isoform (5) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34819
    Consensus CDS
    CCDS44790.1
    UniProtKB/Swiss-Prot
    Q13936
    Related
    ENSP00000382547.1, OTTHUMP00000196733, ENST00000399638.5, OTTHUMT00000317022
    Conserved Domains (5) summary
    pfam00520
    Location:12361515
    Ion_trans; Ion transport protein
    pfam08763
    Location:15881659
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16822114
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15231586
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  6. NM_001129832.1NP_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. This isoform (6) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34818
    Consensus CDS
    CCDS44789.1
    UniProtKB/Swiss-Prot
    Q13936
    Related
    ENSP00000382515.1, OTTHUMP00000196746, ENST00000399606.5, OTTHUMT00000317038
    Conserved Domains (5) summary
    pfam00520
    Location:12561507
    Ion_trans; Ion transport protein
    pfam08763
    Location:15801651
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16742106
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15151578
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  7. NM_001129833.1NP_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
    ENSP00000385724.3, OTTHUMP00000238479, ENST00000402845.7, OTTHUMT00000399108
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601650
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16732105
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  8. NM_001129834.1NP_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
    ENSP00000382530.1, OTTHUMP00000196735, ENST00000399621.5, OTTHUMT00000317024
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601650
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16732105
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  9. NM_001129835.1NP_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
    ENSP00000382546.1, OTTHUMP00000196736, ENST00000399637.5, OTTHUMT00000317025
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601650
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16732105
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  10. NM_001129836.1NP_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. This isoform (10) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34820
    Consensus CDS
    CCDS44797.1
    UniProtKB/Swiss-Prot
    Q13936
    Related
    ENSP00000382537.1, OTTHUMP00000196749, ENST00000399629.5, OTTHUMT00000317041
    Conserved Domains (5) summary
    pfam00520
    Location:12361504
    Ion_trans; Ion transport protein
    pfam08763
    Location:15771648
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16712103
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15121575
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  11. NM_001129837.1NP_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
    ENSP00000382504.1, OTTHUMP00000196731, ENST00000399595.5, OTTHUMT00000317020
    Conserved Domains (5) summary
    pfam00520
    Location:12361476
    Ion_trans; Ion transport protein
    pfam08763
    Location:15491639
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16622094
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14841547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  12. NM_001129838.1NP_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
    ENSP00000382500.1, OTTHUMP00000196737, ENST00000399591.5, OTTHUMT00000317026
    Conserved Domains (5) summary
    pfam00520
    Location:12361476
    Ion_trans; Ion transport protein
    pfam08763
    Location:15491639
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16622094
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14841547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  13. NM_001129839.1NP_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
    ENSP00000382557.1, OTTHUMP00000196751, ENST00000399649.5, OTTHUMT00000317043
    Conserved Domains (5) summary
    pfam00520
    Location:12361474
    Ion_trans; Ion transport protein
    pfam08763
    Location:15471637
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16602092
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14821545
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  14. NM_001129840.1NP_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
    ENSP00000382549.1, OTTHUMP00000196739, ENST00000399641.5, OTTHUMT00000317028
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  15. NM_001129841.1NP_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
    ENSP00000382552.1, OTTHUMP00000196732, ENST00000399644.5, OTTHUMT00000317021
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  16. NM_001129842.1NP_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
    ENSP00000382506.1, OTTHUMP00000196734, ENST00000399597.5, OTTHUMT00000317023
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  17. NM_001129843.1NP_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
    ENSP00000382510.1, OTTHUMP00000196747, ENST00000399601.5, OTTHUMT00000317039
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  18. NM_001129844.1NP_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 (5) summary
    pfam00520
    Location:12331484
    Ion_trans; Ion transport protein
    pfam08763
    Location:15571628
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16512083
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14921555
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  19. NM_001129846.1NP_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
    Conserved Domains (5) summary
    pfam00520
    Location:12361476
    Ion_trans; Ion transport protein
    pfam08763
    Location:15491620
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16432075
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14841547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  20. NM_001167623.1NP_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/Swiss-Prot
    Q13936
    Related
    ENSP00000382512.1, OTTHUMP00000196740, ENST00000399603.5, OTTHUMT00000317029
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  21. NM_001167624.2NP_001161096.2  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)
    AC007618, AF465484, AK309111, KF455578, L29534, Z34816
    Consensus CDS
    CCDS53733.1
    UniProtKB/Swiss-Prot
    Q13936
    UniProtKB/TrEMBL
    A0A0A0MSA1
    Related
    ENSP00000382526.1, OTTHUMP00000196742, ENST00000399617.5, OTTHUMT00000317031
    Conserved Domains (5) summary
    pfam00520
    Location:12361487
    Ion_trans; Ion transport protein
    pfam08763
    Location:15601631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16542121
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14951558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  22. NM_001167625.1NP_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
    Conserved Domains (5) summary
    pfam00520
    Location:12361476
    Ion_trans; Ion transport protein
    pfam08763
    Location:15491620
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:18802146
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14841547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  23. NM_199460.3NP_955630.3  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). This isoform (1) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AB209016, AC007618, AF465484, AK309111, AY562395, KF455578, L29534, L29536, Z34816, Z34822
    UniProtKB/Swiss-Prot
    Q13936
    UniProtKB/TrEMBL
    Q59GU3, Q5V9X9
    Conserved Domains (5) summary
    pfam00520
    Location:12561535
    Ion_trans; Ion transport protein
    pfam08763
    Location:16081679
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:17022169
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15431606
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    1969552..2697949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019926.2XP_016875415.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

  2. XM_017019927.2XP_016875416.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

  3. XM_017019928.2XP_016875417.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

  4. XM_017019929.2XP_016875418.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

  5. XM_017019935.2XP_016875424.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

  6. XM_017019955.2XP_016875444.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

  7. XM_017019946.2XP_016875435.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

    Related
    ENSP00000385896.3, OTTHUMP00000238278, ENST00000406454.7
  8. XM_017019932.2XP_016875421.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    Related
    ENSP00000382542.1, OTTHUMP00000196741, ENST00000399634.5
  9. XM_017019934.2XP_016875423.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

  10. XM_017019943.2XP_016875432.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

  11. XM_017019949.2XP_016875438.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

  12. XM_017019947.2XP_016875436.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

  13. XM_017019950.2XP_016875439.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

  14. XM_017019930.2XP_016875419.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

  15. XM_017019931.2XP_016875420.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

  16. XM_017019933.2XP_016875422.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

  17. XM_017019937.2XP_016875426.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

  18. XM_017019944.2XP_016875433.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

  19. XM_017019936.2XP_016875425.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

  20. XM_017019942.2XP_016875431.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

  21. XM_017019941.2XP_016875430.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

  22. XM_017019939.2XP_016875428.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

  23. XM_017019948.2XP_016875437.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

  24. XM_017019938.2XP_016875427.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

  25. XM_017019945.2XP_016875434.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

  26. XM_017019940.2XP_016875429.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

  27. XM_017019952.2XP_016875441.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

  28. XM_017019951.2XP_016875440.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

  29. XM_011521020.2XP_011519322.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

    Conserved Domains (5) summary
    pfam00520
    Location:12911542
    Ion_trans; Ion transport protein
    pfam08763
    Location:16151686
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:17092141
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15501613
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:232321
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  30. XM_017019954.1XP_016875443.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

  31. XM_006719017.2XP_006719080.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

    Conserved Domains (5) summary
    pfam00520
    Location:12661517
    Ion_trans; Ion transport protein
    pfam08763
    Location:15901661
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16842116
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15251588
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:232321
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein
  32. XM_017019953.1XP_016875442.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

  33. XM_011521023.3XP_011519325.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

    UniProtKB/TrEMBL
    F5H522
    Related
    ENSP00000336982.5, OTTHUMP00000196743, ENST00000335762.9
    Conserved Domains (5) summary
    pfam00520
    Location:12611512
    Ion_trans; Ion transport protein
    pfam08763
    Location:15851656
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16792111
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15201583
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654718.1 Reference GRCh38.p12 PATCHES

    Range
    395394..1046065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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