Human Gene CACNA1I (ENST00000404898.5) from GENCODE V44
  Description: Homo sapiens calcium voltage-gated channel subunit alpha1 I (CACNA1I), transcript variant 2, mRNA. (from RefSeq NM_001003406)
RefSeq Summary (NM_001003406): 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].
Gencode Transcript: ENST00000404898.5
Gencode Gene: ENSG00000100346.18
Transcript (Including UTRs)
   Position: hg38 chr22:39,570,753-39,689,730 Size: 118,978 Total Exon Count: 36 Strand: +
Coding Region
   Position: hg38 chr22:39,570,753-39,686,405 Size: 115,653 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:39,570,753-39,689,730)mRNA (may differ from genome)Protein (2188 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAC1I_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent T-type calcium channel subunit alpha-1I; AltName: Full=Voltage-gated calcium channel subunit alpha Cav3.3; Short=Ca(v)3.3;
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).
SUBUNIT: Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity.
INTERACTION: Q8NEC5:CATSPER1; NbExp=5; IntAct=EBI-1220829, EBI-744545; Q96P56:CATSPER2; NbExp=3; IntAct=EBI-1220829, EBI-2215024;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Brain specific.
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.
PTM: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II (By similarity).
SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CACNA1I
Diseases sorted by gene-association score: childhood absence epilepsy (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.77 RPKM in Brain - Cerebellum
Total median expression: 68.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1449.403325-0.436 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005821 - Ion_trans_dom
IPR005445 - VDCC_T_a1su
IPR002077 - VDCCAlpha1

Pfam Domains:
PF00520 - Ion transport protein

ModBase Predicted Comparative 3D Structure on Q9P0X4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0008332 low voltage-gated calcium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007165 signal transduction
GO:0019228 neuronal action potential
GO:0030317 flagellated sperm motility
GO:0030431 sleep
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0055085 transmembrane transport
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0086010 membrane depolarization during action potential

Cellular Component:
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF211189 - Homo sapiens T-type calcium channel alpha1 subunit Alpha1I-a isoform (CACNA1I) mRNA, complete cds.
AF129133 - Homo sapiens T-type calcium channel alpha1I subunit (CACNA1I) mRNA, complete cds.
AF142567 - Homo sapiens T calcium channel alpha1I subunit, delta36B splice variant (CACNA1I) mRNA, complete cds.
AF393329 - Homo sapiens voltage-dependent calcium channel T-type alpha 1I subunit (CACNA1I) mRNA, complete cds.
AB032946 - Homo sapiens mRNA for KIAA1120 protein, partial cds.
JD206917 - Sequence 187941 from Patent EP1572962.
BC042972 - Homo sapiens calcium channel, voltage-dependent, alpha 1I subunit, mRNA (cDNA clone IMAGE:5294701).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04020 - Calcium signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9P0X4 (Reactome details) participates in the following event(s):

R-HSA-525833 NCAM1 interacts with T- and L-type VDCC
R-HSA-419037 NCAM1 interactions
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B0QY12, B0QY13, B0QY14, CAC1I_HUMAN, ENST00000404898.1, ENST00000404898.2, ENST00000404898.3, ENST00000404898.4, KIAA1120, NM_001003406, O95504, Q5JZ88, Q7Z6S9, Q8NFX6, Q9NZC8, Q9P0X4, Q9UH15, Q9UH30, Q9ULU9, Q9UNE6, uc003ayd.1, uc003ayd.2, uc003ayd.3, uc003ayd.4, uc003ayd.5
UCSC ID: ENST00000404898.5
RefSeq Accession: NM_001003406
Protein: Q9P0X4 (aka CAC1I_HUMAN or CCAI_HUMAN)
CCDS: CCDS46710.1, CCDS46711.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.