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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
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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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