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CACNA1D calcium voltage-gated channel subunit alpha1 D [ Homo sapiens (human) ]

Gene ID: 776, updated on 2-Oct-2018

Summary

Official Symbol
CACNA1Dprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Dprovided by HGNC
Primary source
HGNC:HGNC:1391
See related
Ensembl:ENSG00000157388 MIM:114206; Vega:OTTHUMG00000158278
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
CACH3; CACN4; PASNA; SANDD; Cav1.3; CCHL1A2; CACNL1A2
Summary
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression
Broad expression in adrenal (RPKM 4.1), lung (RPKM 2.3) and 16 other tissues See more
Orthologs

Genomic context

See CACNA1D in Genome Data Viewer
Location:
3p21.1
Exon count:
53
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (53495049..53813151)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53529076..53847179)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377094 Neighboring gene ribosomal protein S25 pseudogene 4 Neighboring gene choline dehydrogenase Neighboring gene interleukin 17 receptor B Neighboring gene ARP8 actin related protein 8 homolog Neighboring gene selenoprotein K

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
Primary aldosteronism, seizures, and neurologic abnormalities
MedGen: C3809609 OMIM: 615474 GeneReviews: Not available
Compare labs
Sinoatrial node dysfunction and deafness
MedGen: C3554018 OMIM: 614896 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
NHGRI GWA Catalog
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
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...
  • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
    Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
  • Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
    Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
  • 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...
  • 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...
  • 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...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • 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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adenylate cyclase-modulating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization during SA node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of atrial cardiac muscle cell membrane repolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
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 potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of potassium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory perception of sound 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
 
cochlear hair cell ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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-1D
Names
calcium channel, L type, alpha-1 polypeptide, isoform 2
calcium channel, neuroendocrine/brain-type, alpha 1 subunit
calcium channel, voltage-dependent, L type, alpha 1D subunit
voltage-gated calcium channel alpha 1 subunit
voltage-gated calcium channel alpha subunit Cav1.3

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_032999.1 RefSeqGene

    Range
    5001..322417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000720.3NP_000711.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB209171, AC132810, AW008794, M76558, M83566
    Consensus CDS
    CCDS2872.1
    UniProtKB/Swiss-Prot
    Q01668
    UniProtKB/TrEMBL
    Q59GD8
    Related
    ENSP00000494413.1, OTTHUMP00000212730, ENST00000645528.1, OTTHUMT00000350555
    Conserved Domains (4) summary
    pfam00520
    Location:12421495
    Ion_trans; Ion transport protein
    pfam08763
    Location:15681639
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16632178
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15031566
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_001128839.2NP_001122311.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AC132810, AW008794, EU363339, M76558, M83566
    Consensus CDS
    CCDS46849.1
    UniProtKB/Swiss-Prot
    Q01668
    Related
    ENSP00000409174.2, OTTHUMP00000212731, ENST00000422281.6, OTTHUMT00000350556
    Conserved Domains (4) summary
    pfam00520
    Location:12221460
    Ion_trans; Ion transport protein
    pfam08763
    Location:15331604
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16282134
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14681531
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. NM_001128840.2NP_001122312.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB209171, AC132810, AW008794, M76558, M83566
    Consensus CDS
    CCDS46848.1
    UniProtKB/Swiss-Prot
    Q01668
    UniProtKB/TrEMBL
    Q59GD8
    Related
    ENSP00000288133.5, OTTHUMP00000212732, ENST00000350061.10, OTTHUMT00000350557
    Conserved Domains (4) summary
    pfam00520
    Location:12221475
    Ion_trans; Ion transport protein
    pfam08763
    Location:15481619
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16432158
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14831546
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

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_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    53495049..53813151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265448.3XP_005265505.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X12

    UniProtKB/TrEMBL
    A0A1B0GUN6
    Related
    ENSP00000490183.1, OTTHUMP00000282526, ENST00000636570.1, OTTHUMT00000490145
    Conserved Domains (4) summary
    pfam00520
    Location:12221460
    Ion_trans; Ion transport protein
    pfam08763
    Location:15331604
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16282143
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14681531
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. XM_011534094.2XP_011532396.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X2

    Conserved Domains (4) summary
    pfam00520
    Location:180454
    Ion_trans; Ion transport protein
    pfam08763
    Location:16331704
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:17282243
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15681631
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. XM_017007141.1XP_016862630.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X6

  4. XM_017007137.1XP_016862626.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X1

  5. XM_017007139.1XP_016862628.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X4

  6. XM_017007142.1XP_016862631.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X7

  7. XM_017007145.1XP_016862634.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X10

  8. XM_017007143.1XP_016862632.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X8

  9. XM_017007138.1XP_016862627.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X3

  10. XM_017007140.1XP_016862629.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X5

  11. XM_011534100.2XP_011532402.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X15

    Conserved Domains (4) summary
    pfam00520
    Location:180454
    Ion_trans; Ion transport protein
    pfam08763
    Location:15981669
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16932208
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15331596
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  12. XM_017007144.1XP_016862633.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X9

    Related
    ENSP00000418014.1, OTTHUMP00000212733, ENST00000481478.1, OTTHUMT00000350558
  13. XM_011534096.2XP_011532398.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X11

    Conserved Domains (4) summary
    pfam00520
    Location:12591497
    Ion_trans; Ion transport protein
    pfam08763
    Location:15701641
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16652180
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:15051568
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  14. XM_011534097.2XP_011532399.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X13

    Conserved Domains (4) summary
    pfam00520
    Location:14275
    Ion_trans; Ion transport protein
    pfam08763
    Location:14541525
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:15492064
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:13891452
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  15. XM_011534099.2XP_011532401.1  voltage-dependent L-type calcium channel subunit alpha-1D isoform X14

    Conserved Domains (4) summary
    pfam00520
    Location:9751256
    Ion_trans; Ion transport protein
    pfam08763
    Location:13291400
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:14241939
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:12641327
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
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