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Aliases for CACNA1F Gene

Aliases for CACNA1F Gene

  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1F Subunit 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.4 3 4
  • CORDX3 3 6
  • CSNB2A 3 6
  • CSNB2 3 6
  • AIED 3 6
  • OA2 3 6
  • Aland Island Eye Disease (Forsius-Eriksson Ocular Albinism, Ocular Albinism Type 2) 2
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1F 3
  • Cav1.4alpha1 3
  • CACNAF1 4
  • CSNBX2 3
  • Cav1.4 3
  • CORDX 3
  • COD4 3
  • COD3 3
  • JMC8 3
  • JM8 3

External Ids for CACNA1F Gene

Previous HGNC Symbols for CACNA1F Gene

  • CSNB2
  • AIED

Previous GeneCards Identifiers for CACNA1F Gene

  • GC0XM047844
  • GC0XM047302
  • GC0XM047868
  • GC0XM048087
  • GC0XM048817
  • GC0XM048948
  • GC0XM049061
  • GC0XM046718

Summaries for CACNA1F Gene

Entrez Gene Summary for CACNA1F Gene

  • 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]

GeneCards Summary for CACNA1F Gene

CACNA1F (Calcium Channel, Voltage-Dependent, L Type, Alpha 1F Subunit) is a Protein Coding gene. Diseases associated with CACNA1F include aland island eye disease and night blindness, congenital stationary , 2a, x-linked. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNA1D.

UniProtKB/Swiss-Prot for CACNA1F Gene

  • Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)

Tocris Summary for CACNA1F Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families. Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1F Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1F Gene

Genomics for CACNA1F Gene

Regulatory Elements for CACNA1F Gene

Genomic Location for CACNA1F Gene

Start:
49,205,063 bp from pter
End:
49,233,371 bp from pter
Size:
28,309 bases
Orientation:
Minus strand

Genomic View for CACNA1F Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA1F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1F Gene

Proteins for CACNA1F Gene

  • Protein details for CACNA1F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60840-CAC1F_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1F
    Protein Accession:
    O60840
    Secondary Accessions:
    • A6NI29
    • F5CIQ9
    • O43901
    • O95226
    • Q9UHB1

    Protein attributes for CACNA1F Gene

    Size:
    1977 amino acids
    Molecular mass:
    220678 Da
    Quaternary structure:
    • Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity).
    SequenceCaution:
    • Sequence=AAB92359.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNA1F Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1F Gene

Proteomics data for CACNA1F Gene at MOPED

Post-translational modifications for CACNA1F Gene

  • Glycosylation at Asn295
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1F Gene

No data available for DME Specific Peptides for CACNA1F Gene

Domains for CACNA1F Gene

Gene Families for CACNA1F Gene

HGNC:
  • CACN :Calcium channel subunits
  • CACN1 :Voltage-gated ion channels / Calcium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O60840

UniProtKB/Swiss-Prot:

CAC1F_HUMAN :
  • O60840
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily.
genes like me logo Genes that share domains with CACNA1F: view

Function for CACNA1F Gene

Molecular function for CACNA1F Gene

GENATLAS Biochemistry: transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,alpha 1F subunit,specifically expressed in retina
UniProtKB/Swiss-Prot Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)

Gene Ontology (GO) - Molecular Function for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005245 voltage-gated calcium channel activity IDA 15897456
GO:0008331 high voltage-gated calcium channel activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA1F: view

Phenotypes for CACNA1F Gene

genes like me logo Genes that share phenotypes with CACNA1F: view

Animal Models for CACNA1F Gene

MGI Knock Outs for CACNA1F:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CACNA1F Gene

Localization for CACNA1F Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1F Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1F Gene COMPARTMENTS Subcellular localization image for CACNA1F gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005891 voltage-gated calcium channel complex IDA 15897456
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 15897456
GO:0043025 neuronal cell body --
genes like me logo Genes that share ontologies with CACNA1F: view

Pathways for CACNA1F Gene

genes like me logo Genes that share pathways with CACNA1F: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for CACNA1F Gene

Gene Ontology (GO) - Biological Process for CACNA1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007409 axonogenesis IEA --
GO:0007601 visual perception IMP 16505158
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNA1F: view

Compounds for CACNA1F Gene

(5) Tocris Compounds for CACNA1F Gene

Compound Action Cas Number
Isradipine Ca2+ channel blocker (L-type) [75695-93-1]
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) [116666-63-8]
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) [106375-28-4]
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels [148553-50-8]
SNX 482 Potent and selective CaV2.3 blocker (R-type) [203460-30-4]

(2) HMDB Compounds for CACNA1F Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Verapamil
  • Akilen
52-53-9

(6) Drugbank Compounds for CACNA1F Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cinnarizine
298-57-7 target inhibitor
Clevidipine
166432-28-6 target
Dronedarone
141626-36-0 target
Mibefradil
116644-53-2 target inhibitor
Nimodipine
  • Nimodipino [INN-Spanish]
66085-59-4 target inhibitor

(4) IUPHAR Ligand for CACNA1F Gene

Ligand Type Action Affinity Pubmed IDs
nifedipine Activator None
(-)-(S)-BayK8644 Activator None
isradipine Gating inhibitor None
BAYK 8644 Activator None

(1) Novoseek inferred chemical compound relationships for CACNA1F Gene

Compound -log(P) Hits PubMed IDs
calcium 47 12
genes like me logo Genes that share compounds with CACNA1F: view

Transcripts for CACNA1F Gene

Unigene Clusters for CACNA1F Gene

Calcium channel, voltage-dependent, L type, alpha 1F subunit:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1F

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1F Gene

No ASD Table

Relevant External Links for CACNA1F Gene

GeneLoc Exon Structure for
CACNA1F
ECgene alternative splicing isoforms for
CACNA1F

Expression for CACNA1F Gene

mRNA expression in normal human tissues for CACNA1F Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNA1F Gene

SOURCE GeneReport for Unigene cluster for CACNA1F Gene Hs.632799

mRNA Expression by UniProt/SwissProt for CACNA1F Gene

O60840-CAC1F_HUMAN
Tissue specificity: Expression in skeletal muscle and retina.
genes like me logo Genes that share expressions with CACNA1F: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CACNA1F Gene

Orthologs for CACNA1F Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1F Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNA1F 35
  • 90.7 (n)
  • 93.51 (a)
CACNA1F 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1F 35
  • 90.28 (n)
  • 92.8 (a)
CACNA1F 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1f 35
  • 87.51 (n)
  • 91.96 (a)
Cacna1f 16
Cacna1f 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1F 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1F 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1f 35
  • 86.59 (n)
  • 91.3 (a)
lizard
(Anolis carolinensis)
Reptilia CACNA1F 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1f 35
  • 69.58 (n)
  • 76.2 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna1f 36
  • 63 (a)
OneToMany
CACNA1F (1 of 2) 36
  • 64 (a)
OneToMany
LOC559964 35
  • 67.73 (n)
  • 72.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-2 37
  • 46 (a)
egl-19 37
  • 57 (a)
Species with no ortholog for CACNA1F:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1F Gene

ENSEMBL:
Gene Tree for CACNA1F (if available)
TreeFam:
Gene Tree for CACNA1F (if available)

Paralogs for CACNA1F Gene

Selected SIMAP similar genes for CACNA1F Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CACNA1F: view

Variants for CACNA1F Gene

Sequence variations from dbSNP and Humsavar for CACNA1F Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs926175 -- 49,218,342(+) GTGTC(A/G)GGTCC intron-variant
rs2071315 -- 49,206,585(+) GCCCT(G/T)GCGCT missense, reference
rs2071316 -- 49,212,906(+) TAATC(C/T)GGAGG intron-variant
rs2071317 -- 49,214,353(+) CTGAG(A/G)CGAGT intron-variant
rs2075866 -- 49,215,504(-) GACCA(C/T)GGCCC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CACNA1F Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680
nsv7442 OTHER Inversion 18451855
nsv469734 CNV Complex 16826518
nsv471602 CNV Gain 15918152
nsv6895 CNV Insertion 18451855

Relevant External Links for CACNA1F Gene

HapMap Linkage Disequilibrium report
CACNA1F
Human Gene Mutation Database (HGMD)
CACNA1F
Locus Specific Mutation Databases (LSDB)
CACNA1F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1F Gene

Disorders for CACNA1F Gene

(3) OMIM Diseases for CACNA1F Gene (300110)

UniProtKB/Swiss-Prot

CAC1F_HUMAN
  • Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269 PubMed:11281458, ECO:0000269 PubMed:12111638, ECO:0000269 PubMed:12187427, ECO:0000269 PubMed:15897456, ECO:0000269 PubMed:22194652, ECO:0000269 PubMed:9662399, ECO:0000269 PubMed:9662400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy, X-linked 3 (CORDX3) [MIM:300476]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:16505158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aaland island eye disease (AIED) [MIM:300600]: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. {ECO:0000269 PubMed:17525176, ECO:0000269 PubMed:22194652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for CACNA1F Gene

Disease -log(P) Hits PubMed IDs
csnb2 99 28
night blindness, congenital stationary 97.9 17
csnb1 92.9 4
oguchis disease 89.7 1
night blindness 85.3 2

Relevant External Links for CACNA1F

GeneTests
CACNA1F
GeneReviews
CACNA1F
Genetic Association Database (GAD)
CACNA1F
Human Genome Epidemiology (HuGE) Navigator
CACNA1F
genes like me logo Genes that share disorders with CACNA1F: view

Publications for CACNA1F Gene

  1. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (PMID: 9662400) Bech-Hansen N.T. … Boycott K.M. (Nat. Genet. 1998) 2 3 4 23
  2. A novel CACNA1F gene mutation causes Aland Island eye disease. (PMID: 17525176) Jalkanen R. … Alitalo T. (Invest. Ophthalmol. Vis. Sci. 2007) 2 3 4 23
  3. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PMID: 16960802) Zeitz C. … Berger W. (Am. J. Hum. Genet. 2006) 3 4 23
  4. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. (PMID: 9344658) Fisher S.E. … Craig I.W. (Genomics 1997) 2 3 4
  5. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. (PMID: 12111638) Wutz K. … Pusch C.M. (Eur. J. Hum. Genet. 2002) 2 3 4

Products for CACNA1F Gene

Sources for CACNA1F Gene

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