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Cacna1f calcium channel, voltage-dependent, alpha 1F subunit [ Mus musculus (house mouse) ]

Gene ID: 54652, updated on 28-Oct-2024

Summary

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Official Symbol
Cacna1fprovided by MGI
Official Full Name
calcium channel, voltage-dependent, alpha 1F subunitprovided by MGI
Primary source
MGI:MGI:1859639
See related
Ensembl:ENSMUSG00000031142 AllianceGenome:MGI:1859639
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
nob2; Sfc17; nerg1; Cav1.4; A930034B14
Summary
Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including intracellular calcium ion homeostasis; neuron projection morphogenesis; and visual perception. Predicted to be located in membrane; perikaryon; and photoreceptor outer segment. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum and hippocampus. Used to study congenital stationary night blindness 2A. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Cacna1f in Genome Data Viewer
Location:
X A1.1; X 3.42 cM
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (7473342..7501435)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (7607103..7635196)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1, regulatory subunit 3F Neighboring gene STARR-positive B cell enhancer mm9_chrX:7151387-7151688 Neighboring gene Foxp3 regulating long intergenic noncoding RNA Neighboring gene forkhead box P3 Neighboring gene coiled-coil domain containing 22 Neighboring gene STARR-positive B cell enhancer ABC_E1215 Neighboring gene synaptophysin Neighboring gene predicted gene 14703 Neighboring gene prickle planar cell polarity protein 3 Neighboring gene proteolipid protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology. Raven MA, et al. J Comp Neurol, 2008 Feb 10. PMID 18076080
  2. The Ca(v)1.4 calcium channel is a critical regulator of T cell receptor signaling and naive T cell homeostasis. Omilusik K, et al. Immunity, 2011 Sep 23. PMID 21835646
  3. Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. Regus-Leidig H, et al. PLoS One, 2014. PMID 24466230, Free PMC Article
  4. Rod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retina. Bayley PR, et al. J Comp Neurol, 2007 Jan 10. PMID 17111373, Free PMC Article
  5. Attenuation of oscillatory potentials in nob2 mice. Yu M, et al. Doc Ophthalmol, 2007 Nov. PMID 17479213, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Function of cone and cone-related pathways in CaV1.4 IT mice.
    Title: Function of cone and cone-related pathways in Ca(V)1.4 IT mice.
  2. A dual role for Cav1.4 Ca(2+) channels in the molecular and structural organization of the rod photoreceptor synapse.
    Title: A dual role for Ca(v)1.4 Ca(2+) channels in the molecular and structural organization of the rod photoreceptor synapse.
  3. Synaptic ribbons foster active zone stability and illumination-dependent active zone enrichment of RIM2 and Cav1.4 in photoreceptor synapses.
    Title: Synaptic ribbons foster active zone stability and illumination-dependent active zone enrichment of RIM2 and Cav1.4 in photoreceptor synapses.
  4. The novel finding of cone-to-rod-bipolar cell contacts in this mouse model of a retinal channelopathy may challenge current views of the role of Cacna1f in photopic vision, it also suggests a potential new target for restorative therapy.
    Title: Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
  5. No cone ERGs could be detected from residual cones, in which S-opsins abnormally migrated to inner segments of the photoreceptors. The mutations of the Cacna1f gene in nob9 mice involved both a single nucleotide G to A transition and a 10-nucleotide insertion, the latter resulting in a frame-shift mutation in exon 14.
    Title: Photoreceptor degeneration in a new Cacna1f mutant mouse model.
  6. Results show that genetic deletion of the synaptic Cav1.4 L-type voltage-gated calcium channels impairs calpain activation and leads to a short-term preservation of photoreceptors in the rd1 mouse.
    Title: Cav1.4 L-Type Calcium Channels Contribute to Calpain Activation in Degenerating Photoreceptors of rd1 Mice.
  7. analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina
    Title: Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina.
  8. CaBP4 forms a collapsed structure around the IQ motif in Cav1.4 that may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2+)-dependent inactivation domain
    Title: Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4).
  9. the importance of proper Cav 1.4 function for efficient PR synapse maturation, and that dysregulation of Cav 1.4 channels in CSNB2 may have synaptopathic consequences
    Title: Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
  10. model for vision impairment with Cav1.4 mutation
    Title: Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables high voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within axonogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within dendrite morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in detection of light stimulus involved in visual perception ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within intracellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in visual perception ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated calcium channel complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
voltage-dependent L-type calcium channel subunit alpha-1F
Names
L-type dihydropyridine-sensitive calcium channel alpha-1f subunit
voltage-gated calcium channel subunit alpha Cav1.4

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_019582.2 → NP_062528.2  voltage-dependent L-type calcium channel subunit alpha-1F

    See identical proteins and their annotated locations for NP_062528.2

    Status: VALIDATED

    Source sequence(s)
    AJ579852, AL672231
    Consensus CDS
    CCDS40840.1
    UniProtKB/TrEMBL
    B1AVA4, Q7TNI3
    Related
    ENSMUSP00000111391.3, ENSMUST00000115726.9
    Conserved Domains (4) summary
    pfam00520
    Location:1210 → 1455
    Ion_trans; Ion transport protein
    pfam08763
    Location:1528 → 1599
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1623 → 1981
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1463 → 1526
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

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_000086.8 Reference GRCm39 C57BL/6J

    Range
    7473342..7501435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030251408.1 → XP_030107268.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform X1

    UniProtKB/TrEMBL
    B1AVA4
    Conserved Domains (4) summary
    pfam00520
    Location:26 → 318
    Ion_trans; Ion transport protein
    pfam08763
    Location:1474 → 1545
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1568 → 1929
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1410 → 1463
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JIS7.1 GenPept UniProtKB/Swiss-Prot:Q9JIS7

Gene LinkOut

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