Cacna1h calcium voltage-gated channel subunit alpha1 H [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Cacna1hprovided by RGD
Official Full Name: calcium voltage-gated channel subunit alpha1 Hprovided by RGD
Primary source: RGD:68943
See related: Ensembl:ENSRNOG00000033893 AllianceGenome:RGD:68943
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables low voltage-gated calcium channel activity. Involved in several processes, including calcium ion import; positive regulation of cardiac muscle cell contraction; and primary alcohol biosynthetic process. Located in several cellular components, including dendrite; nucleus; and perikaryon. Biomarker of sciatic neuropathy. Human ortholog(s) of this gene implicated in childhood absence epilepsy and primary hyperaldosteronism. Orthologous to human CACNA1H (calcium voltage-gated channel subunit alpha1 H). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Adrenal (RPKM 109.0), Brain (RPKM 20.3) and 7 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q12

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (14894630..14952317, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (14390104..14448204, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (14730932..14789201, complement)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of interaction of Cav3.2 and nociceptive TRPA1 in pathological pain transmission.
Title: Involvement of interaction of Cav3.2 and nociceptive TRPA1 in pathological pain transmission.
Effects of the T-type calcium channel CaV3.2 R1584P mutation on absence seizure susceptibility in GAERS and NEC congenic rats models.
Title: Effects of the T-type calcium channel Ca(V)3.2 R1584P mutation on absence seizure susceptibility in GAERS and NEC congenic rats models.
Cav3.2 overexpression in L4 dorsal root ganglion neurons after L5 spinal nerve cutting involves Egr-1, USP5 and HMGB1 in rats: An emerging signaling pathway for neuropathic pain.
Title: Ca(v)3.2 overexpression in L4 dorsal root ganglion neurons after L5 spinal nerve cutting involves Egr-1, USP5 and HMGB1 in rats: An emerging signaling pathway for neuropathic pain.
The present work shows that the exacerbated expression of Cdk5 in a preclinical model of neuropathic pain increases the functional expression of CaV3.2 channels
Title: Cdk5-Dependent Phosphorylation of Ca(V)3.2 T-Type Channels: Possible Role in Nerve Ligation-Induced Neuropathic Allodynia and the Compound Action Potential in Primary Afferent C Fibers.
The authors demonstrate that the Genetic Absence Epilepsy Rat from Strasbourg (GAERS) missense mutation located in the Cav3.2 III-IV linker alters the Cav3.2/calnexin interaction, resulting in an increased surface expression of the channel and a concomitant elevation in calcium influx.
Title: The Cacna1h mutation in the GAERS model of absence epilepsy enhances T-type Ca(2+) currents by altering calnexin-dependent trafficking of Ca(v)3.2 channels.
Study shows that the membrane expression and the function of Cav3.2 T-type calcium channels are increased in the intact L4 dorsal root ganglion neurons in neuropathic pain rats with peripheral nerve injury like spinal nerve ligation.
Title: Upregulation of Ca(v)3.2 T-type calcium channels in adjacent intact L4 dorsal root ganglion neurons in neuropathic pain rats with L5 spinal nerve ligation.
There is a role for CaV3.2 channels in propagating thalamocortical network seizures and in setting the pacemaking frequency of spike-wave discharges.
Title: Ca(V) 3.2 drives sustained burst-firing, which is critical for absence seizure propagation in reticular thalamic neurons.
CaV3.2 T-type calcium channels in damaged medium-sized dorsal root ganglion neurons might contribute to neuropathic pain after peripheral nerve injury.
Title: Increased expression of Ca(V)3.2 T-type calcium channels in damaged DRG neurons contributes to neuropathic pain in rats with spared nerve injury.
(Cav3.2) The percentage of small dorsal root ganglion neurons with Cav3.2 mRNA level is significantly increased in diabetic rats compared with those in control rats.
Title: Diabetic neuropathy enhances voltage-activated Ca2+ channel activity and its control by M4 muscarinic receptors in primary sensory neurons.
This study demonstrated that Cav3.2 in concert with TLR4 in DRG neurons appears to contribute to paclitaxel-induced neuropathy.
Title: Dorsal root ganglion neurons become hyperexcitable and increase expression of voltage-gated T-type calcium channels (Cav3.2) in paclitaxel-induced peripheral neuropathy.

Submit: New GeneRIF Correction See all GeneRIFs (37)

General gene information

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Markers

UniSTS:461910 (e-PCR)
- UniSTS:461910

Cacna1h (e-PCR), detects polymorphism
- UniSTS:461910

Cacna1h (e-PCR), detects polymorphism
- UniSTS:224091

RH128070 (e-PCR)
- UniSTS:211378

RH139078 (e-PCR)
- UniSTS:221164

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables low 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 low voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info
enables low voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables scaffold protein binding	IEA Inferred from Electronic Annotation more info
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in aldosterone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in aldosterone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aldosterone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion import	IEA Inferred from Electronic Annotation more info
involved_in calcium ion import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hormone stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to potassium ion	ISO Inferred from Sequence Orthology more info
involved_in cortisol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cortisol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cortisol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in inorganic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuronal action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of acrosome reaction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of acrosome reaction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of calcium ion-dependent exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cardiac muscle cell contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
part_of voltage-gated calcium channel complex	IC Inferred by Curator more info	PubMed
part_of voltage-gated calcium channel complex	IEA Inferred from Electronic Annotation more info
part_of voltage-gated sodium 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; 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.

mRNA and Protein(s)

NM_153814.2 → NP_722521.1 voltage-dependent T-type calcium channel subunit alpha-1H

See identical proteins and their annotated locations for NP_722521.1

Status: PROVISIONAL

Source sequence(s)

AF290213

UniProtKB/Swiss-Prot

Q9EQ60

UniProtKB/TrEMBL

A6HD26

Conserved Domains (2) summary

PHA03307
Location:1878 → 2259

PHA03307; transcriptional regulator ICP4; Provisional

pfam00520
Location:789 → 1023

Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

14894630..14952317 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063268284.1 → XP_063124354.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X1
XM_063268286.1 → XP_063124356.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X3
XM_063268285.1 → XP_063124355.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X2
XM_063268287.1 → XP_063124357.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X4