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Aliases for CACNA1I Gene

Aliases for CACNA1I Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 I 2 3 5
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1I Subunit 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav3.3 3 4
  • Ca(V)3.3 3 4
  • Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1I 3
  • Calcium Channel, Voltage-Dependent, Alpha 1I Subunit 3
  • KIAA1120 4
  • Cav3.3 3

External Ids for CACNA1I Gene

Previous GeneCards Identifiers for CACNA1I Gene

  • GC22P036581
  • GC22P038209
  • GC22P038291
  • GC22P039966
  • GC22P022931

Summaries for CACNA1I Gene

Entrez Gene Summary for CACNA1I Gene

  • 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]

GeneCards Summary for CACNA1I Gene

CACNA1I (Calcium Voltage-Gated Channel Subunit Alpha1 I) is a Protein Coding gene. Diseases associated with CACNA1I include Childhood Absence Epilepsy. Among its related pathways are DREAM Repression and Dynorphin Expression and Sweet Taste Signaling. GO annotations related to this gene include ion channel activity and low voltage-gated calcium channel activity. An important paralog of this gene is CACNA1H.

UniProtKB/Swiss-Prot for CACNA1I Gene

  • Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).

Tocris Summary for CACNA1I Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1I Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1I Gene

Genomics for CACNA1I Gene

Regulatory Elements for CACNA1I Gene

Enhancers for CACNA1I Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F039606 0.8 ENCODE 12 +49.0 49032 1.4 HDAC1 TBL1XR1 KLF17 GATA2 NCOA1 TFDP1 SMARCA4 GLIS1 PBX2 IKZF1 CACNA1I FAM83F MGAT3 APOBEC3A GC22P039621 GC22M041407
GH22F039592 0.8 Ensembl ENCODE 12 +35.4 35428 2.6 HDAC1 ATF1 PKNOX1 CREB3L1 KLF17 FEZF1 FOS CREM CEBPB SREBF1 CACNA1I ENTHD1 GRAP2 FAM83F MGAT3-AS1 MGAT3 GC22M041407 GC22P039621
GH22F039534 1.1 ENCODE 11.8 -23.3 -23304 1.2 ARID4B FEZF1 DMAP1 ZNF48 ZNF2 GLIS2 ZNF143 KLF7 YY2 SP5 CACNA1I ATF4 FAM83F MGAT3 TNRC6B RPL3 PIR58856
GH22F039535 0.2 ENCODE 11.8 -22.4 -22379 0.2 KDM1A CACNA1I FAM83F MGAT3 TNRC6B RPL3 PIR58856
GH22F039533 0.4 ENCODE 11.8 -24.1 -24119 0.2 TGIF2 CACNA1I FAM83F MGAT3 TNRC6B RPL3 PIR58856
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CACNA1I on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNA1I Gene

Chromosome:
22
Start:
39,557,969 bp from pter
End:
39,689,739 bp from pter
Size:
131,771 bases
Orientation:
Plus strand

Genomic View for CACNA1I Gene

Genes around CACNA1I on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1I Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1I Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1I Gene

Proteins for CACNA1I Gene

  • Protein details for CACNA1I Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0X4-CAC1I_HUMAN
    Recommended name:
    Voltage-dependent T-type calcium channel subunit alpha-1I
    Protein Accession:
    Q9P0X4
    Secondary Accessions:
    • B0QY12
    • B0QY13
    • B0QY14
    • O95504
    • Q5JZ88
    • Q7Z6S9
    • Q8NFX6
    • Q9NZC8
    • Q9UH15
    • Q9UH30
    • Q9ULU9
    • Q9UNE6

    Protein attributes for CACNA1I Gene

    Size:
    2223 amino acids
    Molecular mass:
    245103 Da
    Quaternary structure:
    • Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity.

    Alternative splice isoforms for CACNA1I Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1I Gene

Post-translational modifications for CACNA1I Gene

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNA1I Gene

Antibody Products

  • Abcam antibodies for CACNA1I

No data available for DME Specific Peptides for CACNA1I Gene

Domains & Families for CACNA1I Gene

Gene Families for CACNA1I Gene

Suggested Antigen Peptide Sequences for CACNA1I Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P0X4

UniProtKB/Swiss-Prot:

CAC1I_HUMAN :
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily.
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily.
genes like me logo Genes that share domains with CACNA1I: view

Function for CACNA1I Gene

Molecular function for CACNA1I Gene

GENATLAS Biochemistry:
calcium low activated (LVA) voltage-gated channel,T type alpha 1I subunit,predominantly expressed in brain,involved in pacing neuronal firing and producing network oscillations such as those that occurs during sleeep and epilepsy (potential drug target),existing as two alternatively spliced forms
UniProtKB/Swiss-Prot Function:
Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).

Gene Ontology (GO) - Molecular Function for CACNA1I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity TAS 10454147
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 16740636
GO:0008332 low voltage-gated calcium channel activity IEA --
genes like me logo Genes that share ontologies with CACNA1I: view
genes like me logo Genes that share phenotypes with CACNA1I: view

Animal Models for CACNA1I Gene

MGI Knock Outs for CACNA1I:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1I

miRNA for CACNA1I Gene

miRTarBase miRNAs that target CACNA1I

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA1I Gene

Localization for CACNA1I Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1I Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1I Gene COMPARTMENTS Subcellular localization image for CACNA1I gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CACNA1I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNA1I: view

Pathways & Interactions for CACNA1I Gene

genes like me logo Genes that share pathways with CACNA1I: view

Gene Ontology (GO) - Biological Process for CACNA1I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 10454147
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007165 signal transduction TAS 10454147
GO:0019228 neuronal action potential IEA --
genes like me logo Genes that share ontologies with CACNA1I: view

No data available for SIGNOR curated interactions for CACNA1I Gene

Drugs & Compounds for CACNA1I Gene

(19) Drugs for CACNA1I Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 67
Flunarizine Approved Pharma blocker, Target, inhibitor 5
Paramethadione Approved Pharma blocker, Target, suppressor 0
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 125
Cinnarizine Approved Pharma Target, inhibitor 2

(6) Additional Compounds for CACNA1I Gene - From: Tocris, IUPHAR, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
kurtoxin
Channel blocker
SB209712
Channel blocker
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
omega-agatoxin IVA
Channel blocker 145017-83-0

(5) Tocris Compounds for CACNA1I Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) 106375-28-4
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 148553-50-8

(3) ApexBio Compounds for CACNA1I Gene

Compound Action Cas Number
Mibefradil dihydrochloride Ca2+ channel blocker ,antihypertensive 116666-63-8
NNC 55-0396 T-type calcium channel blocker 357400-13-6
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect 68291-97-4
genes like me logo Genes that share compounds with CACNA1I: view

Transcripts for CACNA1I Gene

Unigene Clusters for CACNA1I Gene

Calcium channel, voltage-dependent, T type, alpha 1I subunit:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1I Gene

No ASD Table

Relevant External Links for CACNA1I Gene

GeneLoc Exon Structure for
CACNA1I
ECgene alternative splicing isoforms for
CACNA1I

Expression for CACNA1I Gene

mRNA expression in normal human tissues for CACNA1I Gene

mRNA differential expression in normal tissues according to GTEx for CACNA1I Gene

This gene is overexpressed in Brain - Cortex (x5.9), Brain - Cerebellum (x4.7), and Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for CACNA1I Gene

This gene is overexpressed in Serum (31.2), Heart (17.3), Pancreatic juice (8.7), and Bone marrow mesenchymal stem cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1I Gene



Protein tissue co-expression partners for CACNA1I Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1I Gene:

CACNA1I

SOURCE GeneReport for Unigene cluster for CACNA1I Gene:

Hs.125116

mRNA Expression by UniProt/SwissProt for CACNA1I Gene:

Q9P0X4-CAC1I_HUMAN
Tissue specificity: Brain specific.
genes like me logo Genes that share expression patterns with CACNA1I: view

Primer Products

Orthologs for CACNA1I Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1I Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1I 34 35
  • 98.72 (n)
dog
(Canis familiaris)
Mammalia CACNA1I 34 35
  • 91.08 (n)
cow
(Bos Taurus)
Mammalia CACNA1I 34 35
  • 90.61 (n)
mouse
(Mus musculus)
Mammalia Cacna1i 34 16 35
  • 87.97 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1i 34
  • 87.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1I 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1I 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1I 34 35
  • 76.82 (n)
lizard
(Anolis carolinensis)
Reptilia CACNA1I 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1i 34
  • 70.63 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna1i 34 35
  • 67.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta cac 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cca-1 36 35
  • 56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
ManyToMany
Species where no ortholog for CACNA1I was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1I Gene

ENSEMBL:
Gene Tree for CACNA1I (if available)
TreeFam:
Gene Tree for CACNA1I (if available)

Paralogs for CACNA1I Gene

(6) SIMAP similar genes for CACNA1I Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CACNA1I: view

Variants for CACNA1I Gene

Sequence variations from dbSNP and Humsavar for CACNA1I Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs879255418 Uncertain significance 39,665,563(+) GCCCA(C/T)CGGCA reference, missense
rs1004963 -- 39,641,280(+) ATCTC(A/T)CTGAA intron-variant
rs1008677 -- 39,613,331(+) AGGGA(C/T)AGGTG intron-variant
rs10212085 -- 39,616,927(+) GGGTG(A/G)GGAAG intron-variant
rs10528897 -- 39,570,247(+) AGATC(-/CCTTCCTT)CCTTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CACNA1I Gene

Variant ID Type Subtype PubMed ID
dgv1315e212 CNV loss 25503493
dgv1316e212 CNV loss 25503493
dgv4572n100 CNV gain 25217958
dgv4573n100 CNV gain 25217958
dgv4574n100 CNV gain 25217958
esv1010347 CNV deletion 20482838
esv2086990 CNV deletion 18987734
esv2724256 CNV deletion 23290073
esv2724257 CNV deletion 23290073
esv2724258 CNV deletion 23290073
esv3348807 CNV duplication 20981092
esv3568397 CNV loss 25503493
esv3568400 CNV loss 25503493
nsv1062800 CNV gain 25217958
nsv1065727 CNV gain 25217958
nsv1112816 CNV deletion 24896259
nsv834200 CNV loss 17160897
nsv955159 CNV deletion 24416366

Variation tolerance for CACNA1I Gene

Residual Variation Intolerance Score: 3.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.06; 98.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1I Gene

Human Gene Mutation Database (HGMD)
CACNA1I
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1I

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1I Gene

Disorders for CACNA1I Gene

MalaCards: The human disease database

(1) MalaCards diseases for CACNA1I Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNA1I

Genetic Association Database (GAD)
CACNA1I
Human Genome Epidemiology (HuGE) Navigator
CACNA1I
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1I
genes like me logo Genes that share disorders with CACNA1I: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNA1I Gene

Publications for CACNA1I Gene

  1. Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity. (PMID: 16740636) Zhang D. … Gopalakrishnan M. (J. Biol. Chem. 2006) 3 4 22 64
  2. Structure and alternative splicing of the gene encoding alpha1I, a human brain T calcium channel alpha1 subunit. (PMID: 10454147) Mittman S. … Agnew W.S. (Neurosci. Lett. 1999) 2 3 4 64
  3. Selective inhibition of Cav3.3 T-type calcium channels by Galphaq/11-coupled muscarinic acetylcholine receptors. (PMID: 17535809) Hildebrand M.E. … Snutch T.P. (J. Biol. Chem. 2007) 3 22 64
  4. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. (PMID: 16939858) Wang J. … Wu X. (Pediatr. Neurol. 2006) 3 46 64
  5. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PMID: 16382099) Catterall W.A. … Striessnig J. (Pharmacol. Rev. 2005) 2 3 64

Products for CACNA1I Gene

Sources for CACNA1I Gene

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