Gene Symbol | CACNA1C |
Entrez ID | 775 |
Uniprot ID | Q13936 |
Description | calcium channel, voltage-dependent, L type, alpha 1C subunit |
Chromosomal Location | chr12: 1,970,786-2,697,950 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0002520 |
immune system development |
The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. |
IMP |
BP |
GO:0007204 |
positive regulation of cytosolic calcium ion concentration |
Any process that increases the concentration of calcium ions in the cytosol. |
IDA |
BP |
GO:0007507 |
heart development |
The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
IMP |
BP |
GO:0010881 |
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction. |
TAS |
BP |
GO:0035115 |
embryonic forelimb morphogenesis |
The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human. |
IMP |
BP |
GO:0035585 |
calcium-mediated signaling using extracellular calcium source |
A series of molecular signals in which a cell uses calcium ions imported from an extracellular source to convert a signal into a response. |
TAS |
BP |
GO:0043010 |
camera-type eye development |
The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
IMP |
BP |
GO:0050796 |
regulation of insulin secretion |
Any process that modulates the frequency, rate or extent of the regulated release of insulin. |
TAS |
BP |
GO:0060402 |
calcium ion transport into cytosol |
The directed movement of calcium ions (Ca2+) into the cytosol. |
TAS |
BP |
GO:0061337 |
cardiac conduction |
Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. |
IMP|TAS |
BP |
GO:0061577 |
calcium ion transmembrane transport via high voltage-gated calcium channel |
A process in which a calcium ion is transported from one side of a membrane to the other by means of a high voltage-gated calcium channel. |
IDA |
BP |
GO:0070588 |
calcium ion transmembrane transport |
A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
IDA|IMP |
BP |
GO:0086002 |
cardiac muscle cell action potential involved in contraction |
An action potential that occurs in a cardiac muscle cell and is involved in its contraction. |
IMP |
BP |
GO:0086012 |
membrane depolarization during cardiac muscle cell action potential |
The process in which cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
IMP |
BP |
GO:0086045 |
membrane depolarization during AV node cell action potential |
The process in which AV node cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
IMP |
BP |
GO:0086064 |
cell communication by electrical coupling involved in cardiac conduction |
The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels and contributes to the process of cardiac conduction. |
TAS |
BP |
GO:0086091 |
regulation of heart rate by cardiac conduction |
A cardiac conduction process that modulates the frequency or rate of heart contraction. |
IMP |
BP |
GO:0098911 |
regulation of ventricular cardiac muscle cell action potential |
Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a ventricular cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
IMP |
BP |
GO:0098912 |
membrane depolarization during atrial cardiac muscle cell action potential |
The process in which atrial cardiac muscle cell membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
IMP |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA|TAS |
CC |
GO:0005891 |
voltage-gated calcium channel complex |
A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential. |
IDA |
CC |
GO:0014069 |
postsynaptic density |
The postsynaptic density is a region that lies adjacent to the cytoplasmic face of the postsynaptic membrane at an excitatory synapse. It forms an electron-dense disc that consists of a range of proteins with different functions, some of which contact the cytoplasmic domains of ion channels in the postsynaptic membrane. The proteins making up the disc include structural proteins linked to the actin cytoskeleton and signalling machinery, such as protein kinases and phosphatases. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IDA |
CC |
GO:0030018 |
Z disc |
Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
ISS |
CC |
GO:1990454 |
L-type voltage-gated calcium channel complex |
A type of voltage-dependent calcium channel responsible for excitation-contraction coupling of skeletal, smooth, and cardiac muscle. 'L' stands for 'long-lasting' referring to the length of activation. |
IDA |
MF |
GO:0005245 |
voltage-gated calcium channel activity |
Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
IDA|IMP|TAS |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005516 |
calmodulin binding |
Interacting selectively and non-covalently with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
IPI |
MF |
GO:0008331 |
high voltage-gated calcium channel activity |
Enables the transmembrane transfer of a calcium ion by a high voltage-gated channel. A high voltage-gated channel is a channel whose open state is dependent on high voltage across the membrane in which it is embedded. |
IDA|TAS |
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
MF |
GO:0051393 |
alpha-actinin binding |
Interacting selectively and non-covalently with alpha-actinin, one of a family of proteins that cross-link F-actin as antiparallel homodimers. Alpha-actinin has a molecular mass of 93-103 KDa; at the N-terminus there are two calponin homology domains, at the C-terminus there are two EF-hands. These two domains are connected by the rod domain. This domain is formed by triple-helical spectrin repeats. |
IPI |
MF |
GO:0086007 |
voltage-gated calcium channel activity involved in cardiac muscle cell action potential |
Enables the transmembrane transfer of a calcium ion by a voltage-gated channel across the plasma membrane of a cardiac muscle cell that contributes to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
IMP |
MF |
GO:0086056 |
voltage-gated calcium channel activity involved in AV node cell action potential |
Enables the transmembrane transfer of a calcium ion by a voltage-gated channel across the plasma membrane of an AV node cardiac muscle cell that contributes to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
IMP |
Domain ID | Description |
---|---|
IPR002077 |
Voltage-dependent calcium channel, alpha-1 subunit |
IPR005446 |
Voltage-dependent calcium channel, L-type, alpha-1 subunit |
IPR005451 |
Voltage-dependent calcium channel, L-type, alpha-1C subunit |
IPR005821 |
Ion transport domain |
IPR014873 |
Voltage-dependent calcium channel, alpha-1 subunit, IQ domain |
IPR031649 |
Voltage-dependent L-type calcium channel, IQ-associated domain |
IPR031688 |
Voltage-gated calcium channel subunit alpha, C-terminal |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04010 |
MAPK signaling pathway |
KEGG |
hsa04020 |
Calcium signaling pathway |
KEGG |
hsa04022 |
cGMP-PKG signaling pathway |
KEGG |
hsa04024 |
cAMP signaling pathway |
KEGG |
hsa04260 |
Cardiac muscle contraction |
KEGG |
hsa04261 |
Adrenergic signaling in cardiomyocytes |
KEGG |
hsa04270 |
Vascular smooth muscle contraction |
KEGG |
hsa04713 |
Circadian entrainment |
KEGG |
hsa04720 |
Long-term potentiation |
KEGG |
hsa04723 |
Retrograde endocannabinoid signaling |
KEGG |
hsa04724 |
Glutamatergic synapse |
KEGG |
hsa04725 |
Cholinergic synapse |
KEGG |
hsa04726 |
Serotonergic synapse |
KEGG |
hsa04727 |
GABAergic synapse |
KEGG |
hsa04728 |
Dopaminergic synapse |
KEGG |
hsa04742 |
Taste transduction |
KEGG |
hsa04911 |
Insulin secretion |
KEGG |
hsa04912 |
GnRH signaling pathway |
KEGG |
hsa04921 |
Oxytocin signaling pathway |
KEGG |
hsa04924 |
Renin secretion |
KEGG |
hsa04925 |
Aldosterone synthesis and secretion |
KEGG |
hsa04930 |
Type II diabetes mellitus |
KEGG |
hsa05010 |
Alzheimer's disease |
KEGG |
hsa05031 |
Amphetamine addiction |
KEGG |
hsa05410 |
Hypertrophic cardiomyopathy (HCM) |
KEGG |
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
KEGG |
hsa05414 |
Dilated cardiomyopathy |
KEGG |
WP536 |
Calcium Regulation in the Cardiac Cell |
WikiPathways |
WP2059 |
Alzheimers Disease |
WikiPathways |
WP1603 |
Nicotine Activity on Chromaffin Cells |
WikiPathways |
WP2118 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0003811 |
Cardiac Arrhythmia |
C0004352 |
Autistic Disorder |
C0005586 |
Bipolar Disorder |
C0020538 |
Hypertensive Disease |
C0020615 |
Hypoglycemia |
C0021051 |
Immunologic Deficiency Syndromes |
C0023976 |
Long Qt Syndrome |
C0036341 |
Schizophrenia |
C0206762 |
Limb Deformities, Congenital |
C1142166 |
Brugada Syndrome (Disorder) |
Tissue | Cell Type |
---|---|
breast |
myoepithelial cells |
cerebral cortex |
endothelial cells |
colon |
endothelial cells |
kidney |
cells in glomeruli |
testis |
Leydig cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
RASGRP1 |
10125 |
O95267 |
0.00 |
RASGRP2 |
10235 |
Q7LDG7 |
0.00 |
RASGRP3 |
25780 |
Q8IV61 |
0.00 |
HDAC4 |
9759 |
P56524 |
0.56 |
GNB1 |
2782 |
P62873 |
0.63 |
VCP |
7415 |
P55072 |
0.63 |
KCNRG |
10206 |
Q8N5I3 |
0.63 |
COPS5 |
10987 |
Q92905 |
0.63 |
DERL1 |
79139 |
Q9BUN8 |
0.63 |
CALM2 |
805 |
P62158 |
0.96 |
CALM3 |
808 |
P62158 |
0.96 |
PPM1A |
5494 |
P35813 |
0.55 |
RIMS1 |
22999 |
Q86UR5 |
0.59 |
PCBD1 |
5092 |
P61457 |
0.63 |
CUL1 |
8454 |
Q13616 |
0.63 |
CAND1 |
55832 |
Q86VP6 |
0.63 |
PRKACA |
5566 |
P17612 |
0.66 |
SIRT1 |
23411 |
Q96EB6 |
0.68 |
CACNB1 |
782 |
Q02641 |
0.70 |
CACNB2 |
783 |
Q08289 |
0.70 |
RYR2 |
6262 |
Q92736 |
0.75 |
SRI |
6717 |
P30626 |
0.75 |
CABP1 |
9478 |
Q9NZU7 |
0.79 |
CACNB3 |
784 |
P54284 |
0.88 |