CACNA1I - calcium voltage-gated channel subunit alpha1 I Gene

Homo sapiens

Also known as Cav3.3; NEDSIS; ca(v)3.3

Gene ID: 8911 | Gene type: protein coding

About CACNA1I

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,570,753-39,689,735 (from NCBI)

This gene has 5 transcripts (splice variants), 265 orthologues, 26 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 1.3), adrenal (RPKM 0.7) and 10 other tissues.

Summary

This gene encodes the pore-forming alpha subunit of a voltage gated Calcium Channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, Calcium Channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

CACNA1I Products(2)

mRNA	Protein	Name
NM_001003406.2	NP_001003406.1	voltage-dependent T-type calcium channel subunit alpha-1I isoform b
NM_021096.4	NP_066919.2	voltage-dependent T-type calcium channel subunit alpha-1I isoform a

CACNA1I Protein Structure

Ion_trans

0
400
800
1200
1600
2000
2223 a.a.

Protein Preferred Names

Protein Names

voltage-dependent T-type calcium channel subunit alpha-1I

calcium channel, voltage-dependent, T type, alpha 1I subunit

Related Diseases

Diseases

Alias

Autosomal Dominant Non-Syndromic Intellectual Disability

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Childhood Electroclinical Syndrome

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence	Jae
Childhood Absence Epilepsy	Absence Epilepsy

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01799	CACNA1I Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CACNA1I	VGNC	VGNC:55869
Macaca mulatta	CACNA1I	VGNC	VGNC:70506
Rattus norvegicus	CACNA1I	RGD	RGD:68944
Canis familiaris	CACNA1I	VGNC	VGNC:38639
Mus musculus	CACNA1I	MGD	MGI:2178051
Felis catus	CACNA1I	VGNC	VGNC:60300

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