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

Summary

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 neuron projection morphogenesis; retina development in camera-type eye; and visual perception. Predicted to be located in membrane and neuronal cell body. Predicted to be integral component of membrane. Predicted to be part of voltage-gated calcium channel complex. 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, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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).
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.
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.
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.
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).
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.
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)

Targeted (6) 1 citation
Endonuclease-mediated (1)
Spontaneous (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXMit26 (e-PCR), detects polymorphism
- UniSTS:116503

DXImx28 (e-PCR), detects polymorphism
- UniSTS:186212

RH139341 (e-PCR)
- UniSTS:221427

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
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 monoatomic ion channel activity	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
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion 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
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
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
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation 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	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)

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

7473342..7501435

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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