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

Gene ID: 58226, updated on 2-Nov-2024

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
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Genomic context

See Cacna1h in Genome Data Viewer
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_000083.7Genomic Context describing neighboring genes Neighboring gene tryptase alpha/beta 1 Neighboring gene STARR-seq mESC enhancer starr_42106 Neighboring gene tryptase beta 2 Neighboring gene tryptase gamma 1 Neighboring gene predicted gene, 33617 Neighboring gene STARR-seq mESC enhancer starr_42107 Neighboring gene tektin 4 Neighboring gene somatostatin receptor 5 Neighboring gene predicted gene, 53993

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 monoatomic ion channel activity ISS
Inferred from Sequence or Structural Similarity
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
 
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 inorganic cation transmembrane transport ISS
Inferred from Sequence or Structural Similarity
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 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
 
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
 
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 ISS
Inferred from Sequence or Structural Similarity
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

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)

  1. NM_001163691.1NP_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/Swiss-Prot
    B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5
    UniProtKB/TrEMBL
    E0CYZ3
    Related
    ENSMUSP00000123741.3, ENSMUST00000159048.9
    Conserved Domains (1) summary
    pfam00520
    Location:8071023
    Ion_trans; Ion transport protein
  2. NM_021415.4NP_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
    E9Q6E4, E9Q6P9
    Related
    ENSMUSP00000125541.2, ENSMUST00000159610.8
    Conserved Domains (1) summary
    pfam00520
    Location:8071023
    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

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    25593259..25655308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    B2RQQ0, E9QNT0, O88427, Q80TJ2, Q9JKU5
    UniProtKB/TrEMBL
    A0AAA9WW37
    Related
    ENSMUSP00000159917.1, ENSMUST00000249751.1
    Conserved Domains (3) summary
    PHA03247
    Location:19432358
    PHA03247; large tegument protein UL36; Provisional
    PHA03307
    Location:10581219
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam00520
    Location:7891023
    Ion_trans; Ion transport protein
  2. XM_006524733.4XP_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:19452360
    PHA03247; large tegument protein UL36; Provisional
    PHA03307
    Location:10581219
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam00520
    Location:7891023
    Ion_trans; Ion transport protein
  3. XM_011246555.3XP_011244857.1  voltage-dependent T-type calcium channel subunit alpha-1H isoform X3

    Conserved Domains (2) summary
    PHA03307
    Location:10581219
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam00520
    Location:7891023
    Ion_trans; Ion transport protein

RNA

  1. XR_385353.4 RNA Sequence

  2. XR_385352.4 RNA Sequence