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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
CACNA1I is a risk gene for schizophrenia in the Han Chinese population
Title: Further evidence for the genetic association between CACNA1I and schizophrenia.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cacna1i (e-PCR), detects polymorphism
- UniSTS:463445

G65376 (e-PCR)
- UniSTS:166508

G65375 (e-PCR)
- UniSTS:166509

D22S645 (e-PCR)
- UniSTS:45722

RH75338 (e-PCR)
- UniSTS:88995

contig_249751 (e-PCR)
- UniSTS:517290

G49248 (e-PCR)
- UniSTS:109004

D22S578 (e-PCR)
- UniSTS:149714

G10206 (e-PCR)
- UniSTS:46304

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

NG_052947.1 RefSeqGene

Range

5001..123983

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

39570753..39689735

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029035.3 → XP_016884524.1 voltage-dependent T-type calcium channel subunit alpha-1I isoform X1
XM_017029036.2 → XP_016884525.1 voltage-dependent T-type calcium channel subunit alpha-1I isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

40041540..40160675

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326079.1 → XP_054182054.1 voltage-dependent T-type calcium channel subunit alpha-1I isoform X2
XM_054326078.1 → XP_054182053.1 voltage-dependent T-type calcium channel subunit alpha-1I isoform X1