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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNA1I Gene

protein-coding   GIFtS: 63
GCID: GC22P039966

Calcium Channel, Voltage-Dependent, T Type, Alpha 1I Subunit

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, T Type, Alpha 1I Subunit1 2     ca(v)3.32
Voltage-Gated Calcium Channel Subunit Alpha Cav3.32 3     Calcium Channel, Voltage-Dependent, Alpha 1I Subunit2
KIAA11203 5     Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1I2
Cav3.32     Ca(v)3.33

External Ids:    HGNC: 13961   Entrez Gene: 89112   Ensembl: ENSG000001003467   OMIM: 6082305   UniProtKB: Q9P0X43   

Export aliases for CACNA1I gene to outside databases

Previous GC identifers: GC22P036581 GC22P038209 GC22P038291 GC22P022931


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 channel, voltage-dependent, T type, alpha 1I subunit) is a protein-coding gene. Diseases associated with CACNA1I include childhood absence epilepsy, and neuroblastoma, and among its related super-pathways are PKC-Theta Pathway and nNOS Signaling in Skeletal Muscle. GO annotations related to this gene include voltage-gated calcium channel activity and low voltage-gated calcium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: CAC1I_HUMAN, Q9P0X4
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. Isoform alpha-1I 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)

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 depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1I Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA1I gene promoter:
         TBP   AP-1   MyoD   AP-2gamma   Egr-2   POU2F1   POU2F1a   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA1I promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA1I

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1I


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

CACNA1I Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1I gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P039966:  view genomic region     (about GC identifiers)

Start:
39,966,758 bp from pter      End:
40,085,742 bp from pter
Size:
118,985 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAC1I_HUMAN, Q9P0X4 (See protein sequence)
Recommended Name: Voltage-dependent T-type calcium channel subunit alpha-1I  
Size: 2223 amino acids; 245103 Da
Subunit: Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: B0QY12 B0QY13 B0QY14 O95504 Q5JZ88 Q7Z6S9 Q8NFX6 Q9NZC8 Q9UH15 Q9UH30
Q9ULU9 Q9UNE6
Alternative splicing: 4 isoforms:  Q9P0X4-1   Q9P0X4-2   Q9P0X4-3   Q9P0X4-4   

Explore the universe of human proteins at neXtProt for CACNA1I: NX_Q9P0X4

Explore proteomics data for CACNA1I at MOPED 

Post-translational modifications:

  • UniProtKB: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II (By
    similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P0X4

  • CACNA1I Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACNA1I Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001003406.1  NP_066919.2  

    ENSEMBL proteins: 
     ENSP00000385680   ENSP00000383887   ENSP00000384093   ENSP00000385019   ENSP00000337829  
     ENSP00000383028  
    Reactome Protein details: Q9P0X4
    Human Recombinant Protein Products for CACNA1I: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex NAS--
    GO:0016020membrane ----

    CACNA1I for ontologies           About GeneDecksing



    CACNA1I Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CACN: Calcium channel subunits
    CACN1: Voltage-gated ion channels / Calcium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav3.3 
    Voltage-gated calcium channels

    4 InterPro protein domains:
     IPR027359 K_channel_four-helix_dom
     IPR002077 VDCCAlpha1
     IPR005821 Ion_trans_dom
     IPR005445 VDCC_T_a1su

    Graphical View of Domain Structure for InterPro Entry Q9P0X4

    ProtoNet protein and cluster: Q9P0X4

    1 Blocks protein domain: IPB005445 T-type voltage-dependent calcium channel alpha-1 subunit signature

    UniProtKB/Swiss-Prot: CAC1I_HUMAN, Q9P0X4
    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
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily


    CACNA1I for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAC1I_HUMAN, Q9P0X4
    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. Isoform alpha-1I 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)

         Genatlas biochemistry entry for CACNA1I:
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005245voltage-gated calcium channel activity TAS10454147
    GO:0005515protein binding IPI16740636
    GO:0008332low voltage-gated calcium channel activity NAS--
         
    CACNA1I for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CACNA1I About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PKC-Theta Pathway
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    2DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    3Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.37
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    5G-Beta Gamma Signaling
    G-Beta Gamma Signaling0.46
    CRHR Pathway0.44
    GHRH Signaling0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CACNA1I
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/36 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1I (see all 36)
        Caspase Cascade
    Fc-GammaR Pathway
    PDGF Pathway
    BMP Pathway
    ITK and TCR Signaling

    1 GeneGo (Thomson Reuters) Pathway for CACNA1I
        Transcription CREB pathway

    4        Reactome Pathways for CACNA1I
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance

    1 PharmGKB Pathway for CACNA1I
        Celecoxib Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for CACNA1I):
        MAPK signaling pathway
    Calcium signaling pathway
    Circadian entrainment


    CACNA1I for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1I

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/47 Interacting proteins for CACNA1I (Q9P0X41, 3 ENSP000003850194) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CATSPER1Q8NEC51, 3, ENSP000003090524EBI-1220829,EBI-744545 I2D: score=1 STRING: ENSP00000309052
    CATSPER2Q96P561, 3EBI-1220829,EBI-2215024 I2D: score=1 
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    KCND2Q9NZV83I2D: score=1 
    KCNIP3Q9Y2W73I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS10454147
    GO:0006811ion transport ----
    GO:0006816calcium ion transport NAS--
    GO:0007165signal transduction TAS10454147
    GO:0007411axon guidance TAS--

    CACNA1I for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA1I for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CACNA1I available from Tocris Bioscience    About this table
    CompoundAction CAS #
    omega-Conotoxin GVIACa2+ channel blocker (N-type)[106375-28-4]
    (+-)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    PregabalinAnticonvulsant. Selectively binds the alpha2delta subunit of voltage-sensitive calcium channels[148553-50-8]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    2 HMDB Compounds for CACNA1I    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    6 DrugBank Compounds for CACNA1I    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 17762320 14704463 19557119 14965331 18433351 20001433 15511691 19948168 20502722
    Flunarizine(E)-1-[Bis-(p-fluorophenyl)methyl]-4-cinnamylpiperazine (see all 6)52468-60-7targetinhibitor19582593 17139284 11784784 17016423
    Mibefradil-- 116644-53-2targetinhibitor9375939 16899990 15562257 9481612
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221
    Paramethadione-- 115-67-3targetsuppressor17139284 17016423
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor17139284 17016423

    6 IUPHAR Ligands for CACNA1I (Cav3.3)    About this table 
    LigandTypeActionAffinityPubmed IDs
    pimozide
    Pore BlockerAntagonist7.511784784
    anandamide
    Pore BlockerAntagonist611742980
    mibefradil
    Pore BlockerAntagonist5.810991994
    SB209712
    Channel blockerNone5.8--
    kurtoxin
    Channel blockerNone5.8--
    Ni2+
    Channel blockerNone5.8--

    1 Novoseek inferred chemical compound relationship for CACNA1I gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 56.5 10 16740636 (2), 11860462 (1), 17317015 (1), 17082234 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about CACNA1I / CAC1I

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for CACNA1I gene (2 alternative transcripts): 
    NM_001003406.1  NM_021096.3  

    Unigene Cluster for CACNA1I:

    Calcium channel, voltage-dependent, T type, alpha 1I subunit
    Hs.125116  [show with all ESTs]
    Unigene Representative Sequence: NM_021096
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000407673 ENST00000401624(uc003aye.3 uc003ayf.3) ENST00000404898
    ENST00000402142(uc003ayc.3 uc003ayd.3) ENST00000471970 ENST00000336649
    ENST00000400164
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    Additional mRNA sequence: 

    AB032946.1 AF129133.1 AF142567.1 AF211189.1 AF393329.1 BC042972.1 

    3 DOTS entries:

    DT.100743777  DT.40125911  DT.40272792 

    24/32 AceView cDNA sequences (see all 32):

    F13540 BQ637689 H55617 BX101763 AB032946 BF879321 N57586 NM_001003406 
    AF142567 AJ573520 BF940871 BM695724 F11119 AF211189 AF129133 NM_021096 
    BX951618 BC042972 BX488084 BI666530 BI597525 N52765 AF393329 BE164503 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNA1I expression in normal human tissues (normalized intensities)      CACNA1I embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGCAGTCA
    CACNA1I Expression
    About this image


    CACNA1I expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See CACNA1I Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA1I

    SOURCE GeneReport for Unigene cluster: Hs.125116

    UniProtKB/Swiss-Prot: CAC1I_HUMAN, Q9P0X4
    Tissue specificity: Brain specific

        SABiosciences Expression via Pathway-Focused PCR Array including CACNA1I: 
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CACNA1I gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1i1 , 5 calcium channel, voltage-dependent, alpha 1I subunit1, 5 87.79(n)1
    93.48(a)1
      15 (37.85 cM)5
    2395561  NM_001044308.21  NP_001037773.21 
     802872385 
    chicken
    (Gallus gallus)
    Aves CACNA1I1 calcium channel, voltage-dependent, T type, alpha 1I more 76.75(n)
    82.11(a)
      427900  XM_425474.2  XP_425474.2 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA1I6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    5(25191713-25379833)
    zebrafish
    (Danio rerio)
    Actinopterygii cacna1i1 calcium channel, voltage-dependent, T type, alpha 1I more 71.36(n)
    76.28(a)
      566351  XM_689623.4  XP_694715.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-alpha1T6
    Ca[2+]-channel protein alpha[[1]] subunit T
    27(a)
    1 → many
    X(6000211-6086516)
    worm
    (Caenorhabditis elegans)
    Secernentea cca-13 Skeletal muscle calcium channel alpha-1
    subunit
    56(a)   X(7884813-7896426)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1I gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1F2  CACNA1G2  SCN8A2  SCN10A2  
    SCN3A2  SCN2A2  CACNA1H2  CACNA1C2  CACNA1S2  SCN11A2  SCN4A2  SCN1A2  
    6 SIMAP similar genes for CACNA1I using alignment to 3 protein entries:     CAC1I_HUMAN (see all proteins):
    SCN3A    SCN5A    CACNA1H    SCN4A    CACNA1G    SCN9A

    CACNA1I for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2816 SNPs in CACNA1I are shown (see all 2816)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1929225571,2
    --39965087(+) AGGCCC/TTGGGA 2 -- us2k10--------
    rs1823785591,2
    --39965128(+) GGTTGC/TGGAGG 2 -- us2k10--------
    rs792334491,2
    C,F--39965151(+) GAGGGC/TACCAT 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1870110681,2
    --39965205(+) GGCCTC/TTCAAC 2 -- us2k10--------
    rs1918542001,2
    --39965265(+) TGTTCA/TCTTGG 2 -- us2k10--------
    rs1507095691,2
    --39965286(+) TTCACC/TTGCCA 2 -- us2k10--------
    rs1378882841,2
    --39965393(+) TGCATC/TACCTA 2 -- us2k10--------
    rs57577281,2
    C--39965471(+) CTAAAG/ACAAGT 2 -- us2k14Minor allele frequency- A:0.39NA WA EA 360
    rs1835743761,2
    --39965606(+) CTGGAA/GTGCAG 2 -- us2k10--------
    rs556843831,2
    C,F--39965699(+) ACAGCG/ATGTGC 2 -- us2k15Minor allele frequency- A:0.18WA NA EA 362

    HapMap Linkage Disequilibrium report for CACNA1I (39966758 - 40085742 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CACNA1I:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724258CNV Deletion23290073
    esv2724257CNV Deletion23290073
    esv1010347CNV Deletion20482838
    esv2086990CNV Deletion18987734
    esv2724256CNV Deletion23290073
    nsv915106CNV Loss21882294
    dgv4976n71CNV Loss21882294
    nsv834200CNV Loss17160897
    nsv915099CNV Loss21882294
    dgv4975n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608230    OMIM disorders: --

    4 diseases for CACNA1I:    About MalaCards
    childhood absence epilepsy    neuroblastoma    neuronitis    schizophrenia


    CACNA1I for disorders           About GeneDecksing

    Genetic Association Database (GAD): CACNA1I
    Human Genome Epidemiology (HuGE) Navigator: CACNA1I (2 documents)

    Export disorders for CACNA1I gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACNA1I gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with CACNA1I)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and alternative splicing of the gene encoding alpha1I, a human brain T calcium channel alpha1 subunit. (PubMed id 10454147)1, 2, 3 Mittman S.... Agnew W.S. (1999)
    2. Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity. (PubMed id 16740636)1, 2, 9 Zhang D.... Gopalakrishnan M. (2006)
    3. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. (PubMed id 16939858)1, 4 Wang J....Wu X. (2006)
    4. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PubMed id 16382099)1, 3 Catterall W.A....Striessnig J. (2005)
    5. Cloning and expression of the human T-type channel Ca(v)3.3: insights into prepulse facilitation. (PubMed id 12080115)1, 2 Gomora J.C.... Perez-Reyes E. (2002)
    6. Specific properties of T-type calcium channels generated by the human alpha1I subunit. (PubMed id 10749850)1, 2 Monteil A.... Nargeot J. (2000)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    8. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    9. Selective inhibition of Cav3.3 T-type calcium channels by Galphaq/11-coupled muscarinic acetylcholine receptors. (PubMed id 17535809)1, 9 Hildebrand M.E....Snutch T.P. (2007)
    10. Functional impact of alternative splicing of human T-type Cav3.3 calcium channels. (PubMed id 15254077)1, 9 Murbartian J....Perez-Reyes E. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8911 HGNC: 1396 AceView: CACNA1I Ensembl:ENSG00000100346 euGenes: HUgn8911
    ECgene: CACNA1I Kegg: 8911 H-InvDB: CACNA1I

    (According to HUGE)
    About This Section
    HUGE: KIAA1120

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA1I Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CACNA1I gene:
    Search GeneIP for patents involving CACNA1I

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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