Version 5.4
Mus musculus Gene: Cacna1f
Summary
InnateDB Gene IDBG-129059.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cacna1f
Gene Name calcium channel, voltage-dependent, alpha 1F subunit
Synonyms A930034B14; Cav1.4; nerg1; nob2; Sfc17
Species Mus musculus
Ensembl Gene ENSMUSG00000031142
Encoded Proteins
IDBP-248993
calcium channel, voltage-dependent, alpha 1F subunit
IDBP-248995
calcium channel, voltage-dependent, alpha 1F subunit
IDBP-790542
calcium channel, voltage-dependent, alpha 1F subunit
IDBP-531699
calcium channel, voltage-dependent, alpha 1F subunit
IDBP-532835
calcium channel, voltage-dependent, alpha 1F subunit
IDBP-532804
calcium channel, voltage-dependent, alpha 1F subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000102001:
This gene encodes a 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq, Feb 2012]
This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome X:7607083-7635196
Strand Forward strand
Band A1.1
Transcripts
ENSMUST00000115726 ENSMUSP00000111391
ENSMUST00000115725 ENSMUSP00000111390
ENSMUST00000155090 ENSMUSP00000138116
ENSMUST00000144522
ENSMUST00000133637 ENSMUSP00000116051
ENSMUST00000141634
ENSMUST00000123979
ENSMUST00000156047 ENSMUSP00000115012
ENSMUST00000128628 ENSMUSP00000119207
ENSMUST00000157000
ENSMUST00000151208
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0008331 high voltage-gated calcium channel activity
Biological Process
GO:0006811 ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0007409 axonogenesis
GO:0007601 visual perception
GO:0034765 regulation of ion transmembrane transport
GO:0048813 dendrite morphogenesis
GO:0050908 detection of light stimulus involved in visual perception
GO:0055085 transmembrane transport
GO:0060041 retina development in camera-type eye
GO:0070509 calcium ion import
GO:0086010 membrane depolarization during action potential
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043025 neuronal cell body
GO:0043204 perikaryon
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000102001
View Gene Order
ENSBTAG00000016097
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04020
Calcium signaling pathway pathway
mmu05010
Alzheimer's disease pathway
mmu04912
GnRH signaling pathway pathway
mmu04010
MAPK signaling pathway pathway
mmu04260
Cardiac muscle contraction pathway
mmu04270
Vascular smooth muscle contraction pathway
mmu05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
mmu05410
Hypertrophic cardiomyopathy (HCM) pathway
mmu05414
Dilated cardiomyopathy pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04912
GnRH signaling pathway pathway
hsa04010
MAPK signaling pathway pathway
hsa05010
Alzheimer's disease pathway
hsa04020
Calcium signaling pathway pathway
hsa05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
hsa04270
Vascular smooth muscle contraction pathway
hsa05410
Hypertrophic cardiomyopathy (HCM) pathway
hsa04260
Cardiac muscle contraction pathway
hsa05414
Dilated cardiomyopathy pathway
INOH
INOH website
GPCR Dopamine D1like receptor signaling pathway pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.289647
RefSeq NM_019582
OMIM
CCDS CCDS40840
HPRD
IMGT
MGI ID
MGI Symbol
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