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calcium voltage-gated channel subunit alpha1 D

Summary

Gene Symbol

CACNA1D

Organism

Homo sapiens (human)

External Links

NCBI Gene

776

PubChem

776

Alliance of Genome Resources

HGNC:1391

Annotation

Keyword

3D-structure
Alternative splicing
Calcium channel
Deafness
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Metal-binding
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Transmembrane helix
Triplet repeat expansion
Voltage-gated channel

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A1B0GUN6
Q59GD8
Q01668	Calcium channel, L type, alpha-1 polypeptide, isoform 2 Voltage-gated calcium channel subunit alpha Cav1.3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 15 in total

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2

3

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GO Term	Evidence Code	PMID
regulation of heart rate by cardiac conduction	IMP	21131953
regulation of potassium ion transmembrane transporter activity	ISS
positive regulation of calcium ion transport	IDA	1309651
calcium ion import across plasma membrane	IBA
membrane depolarization during cardiac muscle cell action potential	IC	21859974

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

G protein-coupled receptor signaling pathway [inference]

adenylate cyclase-modulating G protein-coupled receptor signaling pathway

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

import across plasma membrane [inference]

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

calcium ion transport

calcium ion import

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

import across plasma membrane [inference]

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

organic substance transport [inference]

calcium ion transport

calcium ion import

calcium ion transmembrane transport

calcium ion transmembrane import into cytosol [inference]

calcium ion import across plasma membrane

import into cell [inference]

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

calcium ion import across plasma membrane

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of transport [inference]

regulation of transmembrane transport [inference]

regulation of transmembrane transporter activity [inference]

regulation of monoatomic ion transmembrane transporter activity [inference]

regulation of potassium ion transmembrane transporter activity

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of potassium ion transmembrane transport

regulation of potassium ion transmembrane transporter activity

regulation of monoatomic ion transport [inference]

regulation of metal ion transport [inference]

regulation of potassium ion transport [inference]

regulation of potassium ion transmembrane transport

regulation of potassium ion transmembrane transporter activity

regulation of calcium ion transport [inference]

positive regulation of calcium ion transport

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of potassium ion transmembrane transport

regulation of potassium ion transmembrane transporter activity

positive regulation of monoatomic ion transport [inference]

positive regulation of calcium ion transport

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of calcium ion transport

positive regulation of biological process [inference]

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of calcium ion transport

regulation of cellular process [inference]

signal transduction [inference]

G protein-coupled receptor signaling pathway [inference]

adenylate cyclase-modulating G protein-coupled receptor signaling pathway

regulation of transmembrane transport [inference]

regulation of transmembrane transporter activity [inference]

regulation of monoatomic ion transmembrane transporter activity [inference]

regulation of potassium ion transmembrane transporter activity

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of potassium ion transmembrane transport

regulation of potassium ion transmembrane transporter activity

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of blood circulation [inference]

regulation of heart contraction [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

cardiac conduction [inference]

regulation of heart rate by cardiac conduction

regulation of membrane repolarization [inference]

regulation of cardiac muscle cell membrane repolarization [inference]

regulation of atrial cardiac muscle cell membrane repolarization

regulation of biological quality [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of membrane potential [inference]

action potential [inference]

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

membrane depolarization [inference]

membrane depolarization during action potential [inference]

membrane depolarization during cardiac muscle cell action potential

membrane depolarization during SA node cell action potential

regulation of membrane repolarization [inference]

regulation of cardiac muscle cell membrane repolarization [inference]

regulation of atrial cardiac muscle cell membrane repolarization

regulation of molecular function [inference]

regulation of transporter activity [inference]

regulation of transmembrane transporter activity [inference]

regulation of monoatomic ion transmembrane transporter activity [inference]

regulation of potassium ion transmembrane transporter activity

positive regulation of molecular function [inference]

positive regulation of catalytic activity [inference]

positive regulation of cyclase activity [inference]

positive regulation of adenylate cyclase activity

positive regulation of lyase activity [inference]

positive regulation of adenylate cyclase activity

regulation of catalytic activity [inference]

regulation of cyclase activity [inference]

positive regulation of cyclase activity [inference]

positive regulation of adenylate cyclase activity

regulation of adenylate cyclase activity [inference]

positive regulation of adenylate cyclase activity

positive regulation of catalytic activity [inference]

positive regulation of cyclase activity [inference]

positive regulation of adenylate cyclase activity

positive regulation of lyase activity [inference]

positive regulation of adenylate cyclase activity

regulation of lyase activity [inference]

regulation of adenylate cyclase activity [inference]

positive regulation of adenylate cyclase activity

positive regulation of lyase activity [inference]

positive regulation of adenylate cyclase activity

Displaying **all 4** entries
GO Term	Evidence Code	PMID
L-type voltage-gated calcium channel complex	IDA	1309651
plasma membrane	ISS TAS	21859974
Z disc	ISS
voltage-gated calcium channel complex	IBA IDA	11160515

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex [inference]

voltage-gated calcium channel complex

L-type voltage-gated calcium channel complex

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

calcium channel complex [inference]

voltage-gated calcium channel complex

L-type voltage-gated calcium channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

calcium channel complex [inference]

voltage-gated calcium channel complex

L-type voltage-gated calcium channel complex

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

Z disc

Displaying entries **1 - 5** of 9 in total

1

2

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GO Term	Evidence Code	PMID
voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	21859974
alpha-actinin binding	IPI	17110593
ankyrin binding	ISS	21859974
voltage-gated calcium channel activity	IDA IMP	11160515 18482979 21131953 23913001
metal ion binding	IEA

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity [inference]

voltage-gated monoatomic cation channel activity [inference]

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

monoatomic cation channel activity [inference]

calcium channel activity

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

voltage-gated monoatomic cation channel activity [inference]

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity [inference]

calcium channel activity

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

voltage-gated monoatomic cation channel activity [inference]

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

metal ion transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

inorganic molecular entity transmembrane transporter activity [inference]

inorganic cation transmembrane transporter activity [inference]

metal ion transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

voltage-gated monoatomic ion channel activity [inference]

voltage-gated monoatomic cation channel activity [inference]

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

monoatomic cation channel activity [inference]

calcium channel activity

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

voltage-gated monoatomic cation channel activity [inference]

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

gated channel activity [inference]

voltage-gated channel activity [inference]

voltage-gated monoatomic ion channel activity [inference]

voltage-gated monoatomic cation channel activity [inference]

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

salt transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

voltage-gated calcium channel activity

high voltage-gated calcium channel activity

voltage-gated calcium channel activity involved in cardiac muscle cell action potential

voltage-gated calcium channel activity involved SA node cell action potential

binding [inference]

protein binding

cytoskeletal protein binding [inference]

ankyrin binding

actinin binding [inference]

alpha-actinin binding

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0060173	Timothy syndrome	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy	Alliance of Genome Resources
DOID:5419	schizophrenia	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus	Alliance of Genome Resources

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