Cacna1f calcium voltage-gated channel subunit alpha1 F [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Cacna1fprovided by RGD
Official Full Name: calcium voltage-gated channel subunit alpha1 Fprovided by RGD
Primary source: RGD:621535
See related: EnsemblRapid:ENSRNOG00000010348 AllianceGenome:RGD:621535
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable high voltage-gated calcium channel activity. Involved in visual perception. Located in perikaryon and photoreceptor outer segment. Used to study congenital stationary night blindness. 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 mouse all
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Genomic context

Location:: Xq12

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (17539992..17568308, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (14868096..14896413, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (15712709..15741135, complement)

Chromosome X - NC_086039.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The congenital stationary night blindness Cacna1f mutation reduces the function of slow-twitch skeletal muscle.
Title: Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
This study demonistrated that the animal behavior in rat model of congenital stationary night blindness with Cacna1f mutation.
Title: Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.
Using MEA recording, we provide evidences of functional changes for visual signal pathway plasticity in the Cacna1f mutated retinas.
Title: Visual signal pathway reorganization in the Cacna1f mutant rat model.
A c.2941C>T (p.R981Stop) mutation in Cacna1f was found in affected rats.
Title: A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.

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General gene information

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Gene Ontology Provided by RGD

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	IC Inferred by Curator more info	PubMed
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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
involved_in neurotransmitter secretion	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual perception	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation 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: calcium channel, voltage-dependent, L type, alpha 1F subunit; calcium channel, voltage-dependent, alpha 1F subunit

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_053701.2 → NP_446153.2 voltage-dependent L-type calcium channel subunit alpha-1F

Status: VALIDATED

Source sequence(s)

JAXUCZ010000021

UniProtKB/TrEMBL

A1XIQ4, A6KP96, G3V9W8

Related

ENSRNOP00000061835.1, ENSRNOT00000066489.4

Conserved Domains (4) summary

pfam00520
Location:91 → 383

Ion_trans; Ion transport protein

pfam08763
Location:1524 → 1595

Ca_chan_IQ; Voltage gated calcium channel IQ domain

pfam16885
Location:1618 → 1977

CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term

pfam16905
Location:1460 → 1513

GPHH; Voltage-dependent L-type calcium channel, IQ-associated