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CACNA1I calcium voltage-gated channel subunit alpha1 I [ Homo sapiens (human) ]

Gene ID: 8911, updated on 5-Mar-2024

Summary

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Official Symbol
CACNA1Iprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Iprovided by HGNC
Primary source
HGNC:HGNC:1396
See related
Ensembl:ENSG00000100346 MIM:608230; AllianceGenome:HGNC:1396
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Cav3.3; NEDSIS; ca(v)3.3
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]
Expression
Biased expression in brain (RPKM 1.3), adrenal (RPKM 0.7) and 10 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
22q13.1
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39570753..39689735)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40041540..40160675)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39966758..40085740)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39927967-39928482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39928483-39928998 Neighboring gene Sharpr-MPRA regulatory region 14739 Neighboring gene ribosomal protein S19 binding protein 1 Neighboring gene uncharacterized LOC124905120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39953934-39954532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39970777-39971278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39987813-39988722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19072 Neighboring gene Sharpr-MPRA regulatory region 12417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40022927-40023476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40023477-40024025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40030871-40031590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40047218-40048148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40051895-40052396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40059793-40060322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40101482-40102046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40102047-40102609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40102610-40103173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40114723-40115443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40115444-40116163 Neighboring gene ENTH domain containing 1 Neighboring gene MTFR2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19073 Neighboring gene RN7SK pseudogene 210

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Baez-Nieto D, et al. Brain, 2022 Jun 3. PMID 34919654, Free PMC Article
  2. Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels. Sanchez-Sandoval AL, et al. PLoS One, 2018. PMID 29474447, Free PMC Article
  3. A rare schizophrenia risk variant of CACNA1I disrupts Ca(V)3.3 channel activity. Andrade A, et al. Sci Rep, 2016 Oct 19. PMID 27756899, Free PMC Article
  4. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. Wang J, et al. Pediatr Neurol, 2006 Sep. PMID 16939858
  5. Functional impact of alternative splicing of human T-type Cav3.3 calcium channels. Murbartián J, et al. J Neurophysiol, 2004 Dec. PMID 15254077

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
    Title: Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
  2. Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
    Title: Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
  3. Study identified an association between single nucleotide polymorphisms in CADM2 and Sensation Seeking and Drug Experimentation via single variant, gene- and transcriptome-based analyses; CADM2 has been previously implicated in numerous traits related to risk taking. In addition, we identified an association between variants in CACNA1I and Negative Urgency via single-variant and gene-based analyses.
    Title: Genome-Wide Association Studies of Impulsive Personality Traits (BIS-11 and UPPS-P) and Drug Experimentation in up to 22,861 Adult Research Participants Identify Loci in the CACNA1I and CADM2 genes.
  4. analyses suggest that a single copy of Chr22: 39665939G > A CACNA1I has the capacity to disrupt CaV3.3 channel-dependent functions, including rebound bursting in TRN neurons, with potential implications for schizophrenia pathophysiology.
    Title: A rare schizophrenia risk variant of CACNA1I disrupts Ca(V)3.3 channel activity.
  5. low-voltage activation characteristics of CaV3.3 channels
    Title: Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels.
  6. CACNA1I is a risk gene for schizophrenia in the Han Chinese population
    Title: Further evidence for the genetic association between CACNA1I and schizophrenia.
  7. human Cav3.1, Cav3.2, and Cav3.3 T-type channels specifically associate with CaM at helix 2 of the gating brake in the I-II linker of the channels.
    Title: Calmodulin regulates Ca(v)3 T-type channels at their gating brake.
  8. In gastric cancer, expression of all the CACNA (1G, 1H, 1I) genes was associated with overall survival (OS) among stage I-IV patients. By combining the three potential biomarkers, a TTCC signature was developed, which retained a significant association with OS both in stage IV and stage I-III patients. Alterations in CACNA gene expression are linked to tumour prognosis.
    Title: Prognostic relevance of a T-type calcium channels gene signature in solid tumours: A correlation ready for clinical validation.
  9. significant association exists between the CACNA1I gene and schizophrenia in the Uighur Chinese population
    Title: Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population.
  10. CACNA1I variant is associated with differential antiepileptic drug response in childhood absence epilepsy.
    Title: Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with speech impairment and with or without seizures
MedGen: C5774252 OMIM: 620114 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.
EBI GWAS Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1120

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuronal action potential IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in sleep IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
voltage-dependent T-type calcium channel subunit alpha-1I
Names
calcium channel, voltage-dependent, T type, alpha 1I subunit
calcium channel, voltage-dependent, alpha 1I subunit
voltage-gated calcium channel subunit alpha Cav3.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052947.1 RefSeqGene

    Range
    5001..123983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001003406.2 → NP_001003406.1  voltage-dependent T-type calcium channel subunit alpha-1I isoform b

    See identical proteins and their annotated locations for NP_001003406.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AF142567, AF211189, AF393329, N52765
    Consensus CDS
    CCDS46711.1
    UniProtKB/Swiss-Prot
    Q9P0X4
    Related
    ENSP00000384093.1, ENST00000404898.5
    Conserved Domains (1) summary
    pfam00520
    Location:622 → 831
    Ion_trans; Ion transport protein

  2. NM_021096.4 → NP_066919.2  voltage-dependent T-type calcium channel subunit alpha-1I isoform a

    See identical proteins and their annotated locations for NP_066919.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF142567, AF211189, AF393329, N52765
    Consensus CDS
    CCDS46710.1
    UniProtKB/Swiss-Prot
    B0QY12, B0QY13, B0QY14, O95504, Q5JZ88, Q7Z6S9, Q8NFX6, Q9NZC8, Q9P0X4, Q9UH15, Q9UH30, Q9ULU9, Q9UNE6
    Related
    ENSP00000385019.3, ENST00000402142.4
    Conserved Domains (1) summary
    pfam00520
    Location:657 → 866
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    39570753..39689735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029035.3 → XP_016884524.1  voltage-dependent T-type calcium channel subunit alpha-1I isoform X1

  2. XM_017029036.2 → XP_016884525.1  voltage-dependent T-type calcium channel subunit alpha-1I isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    40041540..40160675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326079.1 → XP_054182054.1  voltage-dependent T-type calcium channel subunit alpha-1I isoform X2

  2. XM_054326078.1 → XP_054182053.1  voltage-dependent T-type calcium channel subunit alpha-1I isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P0X4.1 GenPept UniProtKB/Swiss-Prot:Q9P0X4

Gene LinkOut

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