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    CACNA1H calcium voltage-gated channel subunit alpha1 H [ Homo sapiens (human) ]

    Gene ID: 8912, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CACNA1Hprovided by HGNC
    Official Full Name
    calcium voltage-gated channel subunit alpha1 Hprovided by HGNC
    Primary source
    HGNC:HGNC:1395
    See related
    Ensembl:ENSG00000196557 MIM:607904; AllianceGenome:HGNC:1395
    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
    ECA6; EIG6; HALD4; Cav3.2; CACNA1HB
    Summary
    This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in ovary (RPKM 20.0), endometrium (RPKM 11.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1153106..1221768)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1165753..1237078)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1203106..1271768)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1157970-1158488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1167285-1167853 Neighboring gene 16p subtelomeric meiotic recombination hotspot Neighboring gene uncharacterized LOC105371042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1188009-1188509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1194132-1194948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1194949-1195763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1202005-1202585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1203960-1204727 Neighboring gene uncharacterized LOC124903622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1208711-1209430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1213358-1213914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1222787-1223288 Neighboring gene MS205 minisatellite repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1248019-1248578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1248579-1249136 Neighboring gene uncharacterized LOC124903623 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1274120-1274306 Neighboring gene uncharacterized LOC124903621 Neighboring gene tryptase gamma 1 Neighboring gene tryptase beta 2

    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. Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia. Mustafá ER, et al. Mol Brain, 2022 Nov 17. PMID 36397158, Free PMC Article
    2. The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell. Barghouth M, et al. Cell Calcium, 2022 Dec. PMID 36347081
    3. A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism. Tseng CS, et al. Front Endocrinol (Lausanne), 2022. PMID 35757409, Free PMC Article
    4. Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp. Souza IA, et al. Mol Brain, 2021 Sep 20. PMID 34544471, Free PMC Article
    5. The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. Wei Z, et al. Seizure, 2021 Oct. PMID 34098317

    See all (123) 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. The T-type calcium channel CaV3.2 regulates insulin secretion in the pancreatic beta-cell.
      Title: The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell.
    3. Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia.
      Title: Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia.
    4. Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.
      Title: Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.
    5. A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.
      Title: A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.
    6. Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.
      Title: Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.
    7. De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
      Title: De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
    8. CACNA1H variants are not a cause of monogenic epilepsy.
      Title: CACNA1H variants are not a cause of monogenic epilepsy.
    9. The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study.
      Title: The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study.
    10. Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
      Title: Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
    Submit: New GeneRIF Correction See all GeneRIFs (90)

    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
    Epilepsy, childhood absence, susceptibility to, 6
    MedGen: C2749872 OMIM: 611942 GeneReviews: Not available
    		Compare labs
    Hyperaldosteronism, familial, type IV
    MedGen: C4310756 OMIM: 617027 GeneReviews: Not available
    		Compare labs

    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

    • FLJ90484

    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 low voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables voltage-gated monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aldosterone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion import IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to hormone stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in cellular response to potassium ion IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in cortisol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in inorganic cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle organ development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in myoblast fusion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of acrosome reaction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of heart contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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-1H
    Names
    calcium channel, voltage-dependent, T type, alpha 1H subunit
    calcium channel, voltage-dependent, T type, alpha 1Hb subunit
    low-voltage-activated calcium channel alpha1 3.2 subunit
    low-voltage-activated calcium channel alpha13.2 subunit
    voltage dependent t-type calcium channel alpha-1H subunit
    voltage-gated calcium channel alpha subunit Cav3.2
    voltage-gated calcium channel alpha subunit CavT.2
    voltage-gated calcium channel subunit alpha Cav3.2

    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_012647.1 RefSeqGene

      Range
      4866..73528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005407.2 → NP_001005407.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform b

      See identical proteins and their annotated locations for NP_001005407.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
      Source sequence(s)
      AC120498, AF051946, AF073931, AJ420779, AK074965, BM554380, CA335096, CD243650
      Consensus CDS
      CCDS45376.1
      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000455840.1, ENST00000565831.7
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    2. NM_021098.3 → NP_066921.2  voltage-dependent T-type calcium channel subunit alpha-1H isoform a

      See identical proteins and their annotated locations for NP_066921.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC120498, AF051946, AF070604, AF073931, AJ420779, AK074965, BM554380, CD243650
      Consensus CDS
      CCDS45375.1
      UniProtKB/Swiss-Prot
      B5ME00, F8WFD1, O95180, O95802, Q8WWI6, Q96QI6, Q96RZ9, Q9NYY4, Q9NYY5
      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000334198.7, ENST00000348261.11
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1153106..1221768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434836.1 → XP_047290792.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X7

      Related
      ENSP00000518772.1, ENST00000711483.1

    2. XM_006720963.4 → XP_006721026.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X1

      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000454990.2, ENST00000569107.6
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    3. XM_005255652.5 → XP_005255709.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X2

      UniProtKB/TrEMBL
      A0A1W2PR14
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    4. XM_006720964.4 → XP_006721027.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X4

      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000457555.2, ENST00000564231.6
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    5. XM_006720965.4 → XP_006721028.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X5

      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000454581.2, ENST00000562079.6
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    6. XM_017023819.2 → XP_016879308.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X3

      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000518754.1, ENST00000711438.1

    7. XM_017023820.2 → XP_016879309.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X8

      Related
      ENSP00000518763.1, ENST00000711451.1

    8. XM_017023821.2 → XP_016879310.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X8

    9. XM_006720967.4 → XP_006721030.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X9

      UniProtKB/TrEMBL
      A0A1W2PQW2
      Related
      ENSP00000491945.1, ENST00000639478.1
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    10. XM_006720968.4 → XP_006721031.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X10

      Related
      ENSP00000492650.2, ENST00000637236.3
      Conserved Domains (1) summary
      pfam00520
      Location:810 → 1019
      Ion_trans; Ion transport protein

    11. XM_011522727.4 → XP_011521029.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X11

      Conserved Domains (1) summary
      pfam00520
      Location:810 → 969
      Ion_trans; Ion transport protein

    12. XM_011522724.3 → XP_011521026.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X6

      UniProtKB/TrEMBL
      A0A1W2PR14
      Related
      ENSP00000518759.1, ENST00000711447.1
      Conserved Domains (1) summary
      pfam00520
      Location:628 → 837
      Ion_trans; Ion transport protein

    RNA

    1. XR_002957850.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1165753..1237078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314268.1 → XP_054170243.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X7

    2. XM_054314262.1 → XP_054170237.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X1

    3. XM_054314263.1 → XP_054170238.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X2

    4. XM_054314265.1 → XP_054170240.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X4

    5. XM_054314266.1 → XP_054170241.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X5

    6. XM_054314264.1 → XP_054170239.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X3

    7. XM_054314269.1 → XP_054170244.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X8

    8. XM_054314270.1 → XP_054170245.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X8

    9. XM_054314271.1 → XP_054170246.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X9

    10. XM_054314272.1 → XP_054170247.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X10

    11. XM_054314273.1 → XP_054170248.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X11

    12. XM_054314267.1 → XP_054170242.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X6

    RNA

    1. XR_008484746.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95180.4 GenPept UniProtKB/Swiss-Prot:O95180

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