CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CACNA1Hprovided by HGNC
Official Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunitprovided by HGNC
Primary source: HGNC:1395
See related: Ensembl:ENSG00000196557; HPRD:07442; 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; 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]

Genomic context

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Location :: 16p13.3

Sequence :: Chromosome: 16; NC_000016.9 (1203241..1271772)

See CACNA1H in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The abnormal mRNA expressions of T-type channel alpha1H and alpha1G may be one of the causes of declined semen quality and infertility in varicocele patients.
Title: [Decreased mRNA expressions of T-type channel alpha1H and alpha1G in the sperm of varicocele patients and their implication].
ZnT-1 enhances the activity of CaV3.1 and CaV3.2 via activation of Ras-ERK signaling pathways in the plasma membrane.
Title: ZnT-1 enhances the activity and surface expression of T-type calcium channels through activation of Ras-ERK signaling.
Cav3.2 channels were expressed at the membrane of large portions of cells, with no likely relation to Cav3.1 expression or apoptosis.
Title: T-type voltage-activated calcium channel Cav3.1, but not Cav3.2, is involved in the inhibition of proliferation and apoptosis in MCF-7 human breast cancer cells.
A Ca(v)3.2/syntaxin-1A signaling complex controls T-type channel activity and low-threshold exocytosis.
Title: A Ca(v)3.2/syntaxin-1A signaling complex controls T-type channel activity and low-threshold exocytosis.
Data showed expression of L-type (Ca(v) 1.2), P/Q-type (Ca(v) 2.1), and T-type subtype (Ca(v) 3.1 and Ca(v) 3.2) voltage-gated calcium channels (Ca(v)s) in renal artery and dissected intrarenal blood vessels from nephrectomies.
Title: Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature.
The function of T-type Ca(2+) channels is important for the proliferation of human ovarian cancer cells.
Title: Blockade of T-type Ca(2+) channels inhibits human ovarian cancer cell proliferation.
Review: I-II loops of T-channels play critical roles in the trafficking and gating of these channels. This loop contains an intracellular gating brake that is essential to their ability open after small depolarizations of the membrane.
Title: Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.
Ca(V)3.2 alternative splicing generates significant T-type Ca channel structural and functional diversity with potential implications relevant to cardiac developmental and pathophysiological states
Title: Splice-variant changes of the Ca(V)3.2 T-type calcium channel mediate voltage-dependent facilitation and associate with cardiac hypertrophy and development.
Present evidence that N2O-based inhibition of Cav3.2 channels is mediated by free radical signalling and results in analgesia.
Title: Free radical signalling underlies inhibition of CaV3.2 T-type calcium channels by nitrous oxide in the pain pathway.
functional modulation of the Ca(v)3.2 channels by Cav-3 is important for understanding the compartmentalized regulation of Ca(2+) signaling during normal and pathological processes.
Title: Caveolin-3 regulates protein kinase A modulation of the Ca(V)3.2 (alpha1H) T-type Ca2+ channels.

Submit: New GeneRIF Correction See all (41)

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

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_066921.2	NP_002238.2	KCNMA1	BIND	PubMed	alpha-1-3.2 T-type calcium channel associates with BKCa potassium channel.
O95180	P59768	GNG2	HPRD	PubMed
O95180	Q12791	KCNMA1	HPRD	PubMed
BioGRID:114426	BioGRID:115984	KDM5B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114426	BioGRID:121671	KLHL1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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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...
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...

General gene information

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Genotypes

See CACNA1H SNP Geneview Report
See CACNA1H SNP Genotype Report
See CACNA1H SNP Variation Viewer Report

Homology

Homologs of the CACNA1H gene: The CACNA1H gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
low voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info
metal ion binding	IEA Inferred from Electronic Annotation more info
scaffold protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
aldosterone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
axon guidance	TAS Traceable Author Statement more info
calcium ion import	IDA Inferred from Direct Assay 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
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
positive regulation of acrosome reaction	IMP Inferred from Mutant Phenotype more info
regulation of heart contraction	TAS Traceable Author Statement more info	PubMed
regulation of membrane potential	IDA Inferred from Direct Assay more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
caveola	IEA Inferred from Electronic Annotation more info
integral to membrane	IDA Inferred from Direct Assay more info
sarcolemma	IEA Inferred from Electronic Annotation more info
voltage-gated calcium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: voltage-dependent T-type calcium channel subunit alpha-1H

Names: voltage-dependent T-type calcium channel subunit alpha-1H; voltage-gated calcium channel alpha subunit Cav3.2; voltage-gated calcium channel alpha subunit CavT.2; voltage-gated calcium channel subunit alpha Cav3.2; low-voltage-activated calcium channel alpha13.2 subunit; low-voltage-activated calcium channel alpha1 3.2 subunit; voltage dependent t-type calcium channel alpha-1H subunit; calcium channel, voltage-dependent, T type, alpha 1Hb subunit

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

NG_012647.1 RefSeqGene

Range

5001..73532

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001005407.1 → NP_001005407.1 voltage-dependent T-type calcium channel subunit alpha-1H isoform b

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

B3KQH9

UniProtKB/Swiss-Prot

O95180

Related

ENSP00000351401, ENST00000358590

Conserved Domains (1) summary

pfam00520
Location:1645 – 1836
Blast Score: 358

Ion_trans; Ion transport protein
NM_021098.2 → NP_066921.2 voltage-dependent T-type calcium channel subunit alpha-1H isoform a

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/TrEMBL

B3KQH9

UniProtKB/Swiss-Prot

O95180

Related

ENSP00000334198, OTTHUMP00000249841, ENST00000348261, OTTHUMT00000421601

Conserved Domains (1) summary

pfam00520
Location:1651 – 1842
Blast Score: 359

Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

1203241..1271772

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

1111743..1204831

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

1115853..1208256

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01030324.1 (7218..55685)	None
genomic	ABBA01030325.1	None
genomic	ABBA01030326.1	None
genomic	ABBA01030327.1	None
genomic	ABBA01030328.1	None
genomic	ABBA01030329.1	None
genomic	AC120498.2 (97957..97958)	None
genomic	AE006466.1	AAK61268.1
genomic	AF223560.2	AAF60160.2
genomic	AF223561.1	AAF60161.1
genomic	AF223562.1	AAF60162.1
genomic	AF223563.3	AAF60163.1
genomic	AL031703.12	CAC42094.1
genomic	AL031715.31	None
genomic	AMYH01007021.1 (2616..4222)	None
genomic	AMYH01007022.1	None
genomic	AMYH01007023.1	None
genomic	AMYH01007024.1	None
genomic	AMYH01007025.1	None
genomic	AMYH01007026.1	None
genomic	AMYH01007027.1	None
genomic	AMYH01007028.1	None
genomic	CH471112.2	EAW85683.1
		EAW85684.1
mRNA	AF051946.3	AAC67239.3
mRNA	AF070604.1	None
mRNA	AF073931.1	AAD17668.1
mRNA	AJ420779.1	CAD12646.1
mRNA	AK074965.1	BAG52041.1
mRNA	BM554380.1	None
mRNA	CA335096.1	None
mRNA	CD243650.1	None
mRNA	DQ363526.1	ABC88009.1
mRNA	DQ363527.1	ABC88010.1
mRNA	DQ363528.1	ABC88011.1
mRNA	DQ363529.1	ABC88012.1