Version 5.4
Homo sapiens Gene: CACNA1H
Summary
InnateDB Gene IDBG-8546.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CACNA1H
Gene Name calcium channel, voltage-dependent, T type, alpha 1H subunit
Synonyms CACNA1HB; Cav3.2; ECA6; EIG6
Species Homo sapiens
Ensembl Gene ENSG00000196557
Encoded Proteins
IDBP-8478
calcium channel, voltage-dependent, T type, alpha 1H subunit
IDBP-8548
calcium channel, voltage-dependent, T type, alpha 1H subunit
IDBP-746516
IDBP-750808
IDBP-746463
IDBP-749859
IDBP-745734
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:1153241-1221771
Strand Forward strand
Band p13.3
Transcripts
ENST00000348261 ENSP00000334198
ENST00000358590 ENSP00000351401
ENST00000565831 ENSP00000455840
ENST00000569107 ENSP00000454990
ENST00000564954
ENST00000562079 ENSP00000454581
ENST00000564231 ENSP00000457555
ENST00000564927 ENSP00000455512
ENST00000569953
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005515 protein binding
GO:0008332 low voltage-gated calcium channel activity
GO:0046872 metal ion binding
GO:0097110 scaffold protein binding
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0006936 muscle contraction
GO:0007411 axon guidance
GO:0007517 muscle organ development
GO:0007520 myoblast fusion
GO:0008016 regulation of heart contraction
GO:0032342 aldosterone biosynthetic process
GO:0032870 cellular response to hormone stimulus
GO:0034651 cortisol biosynthetic process
GO:0034765 regulation of ion transmembrane transport
GO:0035865 cellular response to potassium ion
GO:0042391 regulation of membrane potential
GO:0055085 transmembrane transport
GO:0070509 calcium ion import
GO:0086010 membrane depolarization during action potential
GO:2000344 positive regulation of acrosome reaction
Cellular Component
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024112
View Gene Order
ENSBTAG00000026461
Not yet available
Pathways
NETPATH
REACTOME
REACT_18312
NCAM1 interactions pathway
REACT_18334
NCAM signaling for neurite out-growth pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
KEGG
hsa04010
MAPK signaling pathway pathway
hsa04020
Calcium signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.459642 Hs.629073
RefSeq NM_001005407 NM_021098 XM_006720967 XM_006720968 XM_006720969
HUGO
OMIM
CCDS CCDS45375 CCDS45376
HPRD 07442
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca