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

    Gene ID: 8911, updated on 9-Dec-2024

    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39570753..39689735)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40041540..40160675)
    RS_2024_09 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

    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 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    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 calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    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

    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
      B0QY12, B0QY13, B0QY14, O95504, Q5JZ88, Q7Z6S9, Q8NFX6, Q9NZC8, Q9P0X4, Q9UH15, Q9UH30, Q9ULU9, Q9UNE6
      Related
      ENSP00000385019.3, ENST00000402142.4
      Conserved Domains (1) summary
      pfam00520
      Location:657866
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    mRNA and Protein(s)

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

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