Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cacna1hprovided by MGI
Official Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunitprovided by MGI
Primary source: MGI:MGI:1928842
See related: Ensembl:ENSMUSG00000024112 AllianceGenome:MGI:1928842
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cav3.2; MNCb-1209; alpha13.2
Summary: Voltage-dependent Ca(2+) channels mediate the entry of Ca(2+) ions into excitable cells and are involved in a variety of Ca(2+)-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. The protein encoded by this gene is an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
Expression: Broad expression in adrenal adult (RPKM 52.1), testis adult (RPKM 28.2) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 12.53 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (25593259..25655308, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (25374285..25436334, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.
Title: The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.
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.
Senolytics prevent caveolar CaV 3.2-RyR axis malfunction in old vascular smooth muscle.
Title: Senolytics prevent caveolar Ca(V) 3.2-RyR axis malfunction in old vascular smooth muscle.
Adiponectin receptor 1-mediated stimulation of Cav3.2 channels in trigeminal ganglion neurons induces nociceptive behaviors in mice.
Title: Adiponectin receptor 1-mediated stimulation of Cav3.2 channels in trigeminal ganglion neurons induces nociceptive behaviors in mice.
A link between agrin signalling and Cav3.2 at the neuromuscular junction in spinal muscular atrophy.
Title: A link between agrin signalling and Ca(v)3.2 at the neuromuscular junction in spinal muscular atrophy.
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.
Cav 3.2 T-type calcium channel regulates mouse platelet activation and arterial thrombosis.
Title: Ca(v) 3.2 T-type calcium channel regulates mouse platelet activation and arterial thrombosis.
[Effects of CACNA1H gene knockout on autistic-like behaviors and the morphology of hippocampal neurons in mice].
Title: [Effects of CACNA1H gene knockout on autistic-like behaviors and the morphology of hippocampal neurons in mice].
Targeting the T-type calcium channel Cav3.2 in GABAergic arcuate nucleus neurons to treat obesity.
Title: Targeting the T-type calcium channel Cav3.2 in GABAergic arcuate nucleus neurons to treat obesity.
Painful diabetic neuropathy leads to functional CaV3.2 expression and spontaneous activity in skin nociceptors of mice.
Title: Painful diabetic neuropathy leads to functional Ca(V)3.2 expression and spontaneous activity in skin nociceptors of mice.

Submit: New GeneRIF Correction See all GeneRIFs (93)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237584

Cacna1h (e-PCR), detects polymorphism
- UniSTS:467530

Cacna1h (e-PCR), detects polymorphism
- UniSTS:463444

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

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

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

AI661859 (e-PCR)
- UniSTS:166035

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables low voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables low voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables low voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic cation channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation 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	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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in neuronal action potential	IBA Inferred from Biological aspect of Ancestor 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	ISO Inferred from Sequence Orthology more info
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
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic active zone membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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: T-type Cav3.2; calcium channel alpha13.2 subunit; low-voltage-activated calcium channel alpha13.2 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_001163691.1 → NP_001157163.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC122454, AI834839, AK147242

UniProtKB/TrEMBL

E0CYZ3

Related

ENSMUSP00000123741.3, ENSMUST00000159048.9

Conserved Domains (1) summary

pfam00520
Location:807 → 1023

Ion_trans; Ion transport protein
NM_021415.4 → NP_067390.4 voltage-dependent T-type calcium channel subunit alpha-1H isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC122454, AI834839, AK135951, AK147242

Consensus CDS

CCDS37501.1

UniProtKB/Swiss-Prot

B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5

UniProtKB/TrEMBL

E9Q6P9

Related

ENSMUSP00000125541.2, ENSMUST00000159610.8

Conserved Domains (1) summary

pfam00520
Location:807 → 1023

Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

25593259..25655308 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524734.4 → XP_006524797.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X2

UniProtKB/Swiss-Prot

B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5

Related

ENSMUSP00000159917.1, ENSMUST00000249751.1

Conserved Domains (3) summary

PHA03247
Location:1943 → 2358

PHA03247; large tegument protein UL36; Provisional

PHA03307
Location:1058 → 1219

PHA03307; transcriptional regulator ICP4; Provisional

pfam00520
Location:789 → 1023

Ion_trans; Ion transport protein
XM_006524733.4 → XP_006524796.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X1

UniProtKB/Swiss-Prot

B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5

Conserved Domains (3) summary

PHA03247
Location:1945 → 2360

PHA03247; large tegument protein UL36; Provisional

PHA03307
Location:1058 → 1219

PHA03307; transcriptional regulator ICP4; Provisional

pfam00520
Location:789 → 1023

Ion_trans; Ion transport protein
XM_011246555.3 → XP_011244857.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform X3

Conserved Domains (2) summary

PHA03307
Location:1058 → 1219

PHA03307; transcriptional regulator ICP4; Provisional

pfam00520
Location:789 → 1023

Ion_trans; Ion transport protein