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

    Gene ID: 54652, updated on 2-Nov-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, Nov 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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