U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 8911, updated on 8-Dec-2022

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CACNA1I in Genome Data Viewer
Location:
22q13.1
Exon count:
37
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39570753..39689735)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40041540..40160671)
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 ribosomal protein S19 binding protein 1 Neighboring gene uncharacterized LOC124905120 Neighboring gene Sharpr-MPRA regulatory region 12417 Neighboring gene ENTH domain containing 1 Neighboring gene MTFR2 pseudogene 2 Neighboring gene RN7SK pseudogene 210

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures
MedGen: CN322434 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of monoatomic ion transmembrane transport 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
 
involved_in sodium ion transmembrane transport 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
PubMed 
part_of voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

NEW Try the new Transcript table

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_001003406.2NP_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:622831
    Ion_trans; Ion transport protein
  2. NM_021096.4NP_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
    Q9P0X4, Q9UNE6
    Related
    ENSP00000385019.3, ENST00000402142.4
    Conserved Domains (1) summary
    pfam00520
    Location:657866
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017029035.3XP_016884524.1  voltage-dependent T-type calcium channel subunit alpha-1I isoform X1

  2. XM_017029036.2XP_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..40160671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)