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

Gene ID: 8912, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000172992
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

Genomic context

See CACNA1H in Genome Data Viewer
Location:
16p13.3
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (1153241..1221772)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1203241..1271772)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984906 Neighboring gene 16p subtelomeric meiotic recombination hotspot Neighboring gene uncharacterized LOC105371042 Neighboring gene MS205 minisatellite repeat instability region Neighboring gene tryptase gamma 1 Neighboring gene tryptase beta 2 (gene/pseudogene) Neighboring gene tryptase alpha/beta 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
    Aldosterone synthesis and secretion, organism-specific biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
    Aldosterone synthesis and secretion, conserved biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
    Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NCAM1 interactions, organism-specific biosystem (from REACTOME)
    NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90484

Gene Ontology Provided by GOA

Function Evidence Code Pubs
low voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
low voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aldosterone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to hormone stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to potassium ion IEP
Inferred from Expression Pattern
more info
PubMed 
cortisol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
inorganic cation transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle organ development NAS
Non-traceable Author Statement
more info
PubMed 
myoblast fusion TAS
Traceable Author Statement
more info
PubMed 
neuronal action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of acrosome reaction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of heart contraction TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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-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)

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
    5001..73532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005407.1NP_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/Swiss-Prot
    O95180
    UniProtKB/TrEMBL
    B3KQH9
    Related
    ENSP00000351401.4, ENST00000358590.8
    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  2. NM_021098.2NP_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, CA335096, CD243650
    Consensus CDS
    CCDS45375.1
    UniProtKB/Swiss-Prot
    O95180
    UniProtKB/TrEMBL
    B3KQH9
    Related
    ENSP00000334198.7, OTTHUMP00000249841, ENST00000348261.10, OTTHUMT00000421601
    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    1153241..1221772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522727.3XP_011521029.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X10

    Conserved Domains (1) summary
    pfam00520
    Location:810969
    Ion_trans; Ion transport protein
  2. XM_006720967.3XP_006721030.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X8

    UniProtKB/TrEMBL
    A0A1W2PQW2
    Related
    ENSP00000491945.1, ENST00000639478.1
    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  3. XM_006720968.3XP_006721031.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X9

    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  4. XM_006720963.3XP_006721026.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X1

    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  5. XM_005255652.4XP_005255709.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X2

    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  6. XM_006720964.3XP_006721027.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X4

    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  7. XM_006720965.3XP_006721028.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X5

    Conserved Domains (1) summary
    pfam00520
    Location:8101019
    Ion_trans; Ion transport protein
  8. XM_017023819.1XP_016879308.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X3

  9. XM_017023820.1XP_016879309.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X7

  10. XM_017023821.1XP_016879310.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X7

  11. XM_011522724.2XP_011521026.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X6

    Conserved Domains (1) summary
    pfam00520
    Location:628837
    Ion_trans; Ion transport protein

RNA

  1. XR_002957850.1 RNA Sequence

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