CACNA1I - calcium voltage-gated channel subunit alpha1 I Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8911

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16740636 GOA
enables voltage-gated calcium channel activity IDA
IDA: Inferred from direct assay
10749850 GOA
enables voltage-gated calcium channel activity IMP
IMP: Inferred from mutant phenotype
33704440 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNA1I Protein Structure

Ion_trans

Ion_trans: Ion transport protein (118 - 397)

Ion_trans

Ion_trans: Ion transport protein (674 - 860)

Ion_trans

Ion_trans: Ion transport protein (1208 - 1430)

Ion_trans

Ion_trans: Ion transport protein (1521 - 1728)

  • 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

CACNA1I Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CACNA1I Q9P0X4 CATSPER2 Homo sapiens Q96P56
Anti Bait CoIP
16740636
Intra
CACNA1I Q9P0X4 CATSPER2 Homo sapiens Q96P56
Pull Down
16740636
Intra
CACNA1I Q9P0X4 CATSPER1 Homo sapiens Q8NEC5
Anti Bait CoIP
16740636
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01799 CACNA1I Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20626 Cacna1i Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27135 Cacna1i Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others CACNA1I NCBI