Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit Proteins (CACNA1F)

CACNA1F encodes a member of the alpha-1 subunit family\; a protein in the voltage-dependent calcium channel complex. Additionally we are shipping Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit Antibodies (30) and Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit Kits (5) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
CACNA1F 778 O60840
Rat CACNA1F CACNA1F 114493  
CACNA1F 54652  
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Top Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit Proteins at antibodies-online.com

Showing 6 out of 9 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 30 to 35 Days
$5,370.21
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Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$9,626.73
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Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 30 to 35 Days
$5,370.21
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Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$9,626.73
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Wheat germ Human GST tag 10 μg Log in to see 11 to 12 Days
$340.00
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Escherichia coli (E. coli) Mouse Un-conjugated   100 μg Log in to see 11 to 18 Days
$582.75
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CACNA1F Proteins by Origin and Source

Origin Expressed in Conjugate
Human , ,
,
Mouse (Murine) ,

More Proteins for Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit (CACNA1F) Interaction Partners

Human Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit (CACNA1F) interaction partners

  1. CaV1.4 channels are indeed modulated by PKA phosphorylation within the inhibitor of Ca(2+)-dependent inactivation (ICDI) motif.

  2. These two cases demonstrate the clinical overlap between Leber congenital amaurosis and type 2 congenital stationary night blindness in infants and young children. Genetic testing is an essential tool in these cases and provides a more accurate diagnosis and prognosis for patients with inherited retinal degenerative disorders.

  3. AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F.

  4. exon 47 encodes structural determinants that regulate CDI and voltage-dependent activation of Cav1.4, and is necessary for modulation of channel activation by CaBP4.

  5. Studies indicate a role for L-type calcium channel Cav1.3 and Cav1.4 in cochlear inner hair cells (IHCs) and retinal photoreceptors (PRs).

  6. a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by retinitis pigmentosa, is identified.

  7. novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP.

  8. analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina

  9. Data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic congenital stationary night blindness type 2A.

  10. Mutation in Cav1.4 gene is associated with congenital stationary night blindness type 2.

  11. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.

  12. In 55 male patients with Congenital Stationary Night Blindness 2, we identified 26 pathogenic sequence changes in the CACNA1F gene. Seventeen of these were novel, 14 of these mutations were nonsense or frameshift mutations, and 3 were missense mutations.

  13. Mutations in Ca(v)1.4 alpha1 are associated with X-linked retinal disorders.

  14. This is the first case report describing outer retinal structural anomaly consistent with abnormal bipolar cell synapses in CACNA1F-related disease.

  15. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).

  16. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB).

  17. A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a Canadian family.

  18. Congenital stationary night blindness (CSNB2) patients had significantly thinner retinas than myopic controls; and demonstrated qualitatively normal SD OCT and FAF images, and therefore can be differentiated from retinitis pigmentosa patients.

  19. comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them from Germany

  20. Novel nonsense mutation detected in exon 7 occurs after the predicted fifth transmembrane domain, deleting part of domain I and all of domains II, III,IV, the EF-hand motif and cytoplasmic C-terminus.

Zebrafish Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit (CACNA1F) interaction partners

  1. CACNA1F exhibited small spot-like staining beneath the RIM2 and RIBEYE structures.

  2. Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.

Mouse (Murine) Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit (CACNA1F) interaction partners

  1. 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.

  2. analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina

  3. 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

  4. 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

  5. model for vision impairment with Cav1.4 mutation

  6. Data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic congenital stationary night blindness type 2A.

  7. In the absence of the CaV1.4 channel, photoreceptor synapses remain immature and are unable to stabilize.

  8. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).

  9. Proper targeting of synaptic proteins and PMCAs to photoreceptor terminals requires adequate expression of Cav1.4 subunit.

  10. Ca(V)1.4 functions in controlling naive T cell homeostasis and antigen-driven T cell immune responses

  11. Cacna1f ( G305X ) is a true knockout model for human congenital stationary night blindness 2 (CSNB2), with prominent defects in cone and rod function. Cacna1f ( nob2 ) is an incomplete knockout model for CSNB2.

  12. report the presence of the alpha(1F) subunit in mouse retinal bipolar cell synaptic terminals

  13. These findings in the Cacna1f-mutant mouse reveal that the Ca(v)1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses.

  14. the genetic locus for incomplete congenital stationary night blindness has been identified as the CACNA1f gene

  15. Results identify an autoinhibitory domain in the distal C terminus of Cav1.4 that serves to abolish calcium-dependent inactivation.

  16. Loss of Ca(v)1.4 leads to the aberrant outgrowth of rod bipolar cell dendrites and horizontal cell processes into the outer nuclear layer (ONL) of the nob2 retina and to the formation of ectopic synaptic contacts with rod photoreceptors in the ONL.

  17. In nob2 mice, expressing a null mutation in Cacna1f encoding the Ca(V)1.4 subunit of voltage-dependent calcium channels, rod- and cone-driven oscillatory potentials are reduced in amplitude and occur at a lower frequency range.

  18. Results suggest a role for Cacna1f in ribbon assembly in addition to modulating calcium influx and glutamate release.

  19. results suggest the Cacna1f(nob2) mouse is not a CACNA1F knockout model

  20. calmodulin is important for Cav1.4 function because it increases current density and slows down voltage-dependent inactivation.

Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit (CACNA1F) Protein Profile

Protein Summary

This gene encodes a member of the alpha-1 subunit family\; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2).

Gene names and symbols associated with CACNA1F

  • calcium voltage-gated channel subunit alpha1 F (CACNA1F)
  • calcium voltage-gated channel subunit alpha1 F (Cacna1f)
  • voltage-dependent L-type calcium channel subunit alpha-1F (LOC465629)
  • calcium channel, voltage-dependent, L type, alpha 1F subunit (cacna1fb)
  • calcium channel, voltage-dependent, L type, alpha 1F subunit a (cacna1fa)
  • calcium voltage-gated channel subunit alpha1 F (cacna1f)
  • calcium channel, voltage-dependent, alpha 1F subunit (Cacna1f)
  • A930034B14 protein
  • AIED protein
  • CACNA1F protein
  • Cav1.4 protein
  • Cav1.4alpha1 protein
  • COD3 protein
  • COD4 protein
  • CORDX protein
  • CORDX3 protein
  • CSNB2 protein
  • CSNB2A protein
  • CSNBX2 protein
  • JM8 protein
  • JMC8 protein
  • nerg1 protein
  • nob2 protein
  • OA2 protein
  • Sfc17 protein

Protein level used designations for CACNA1F

voltage-dependent L-type calcium channel subunit alpha-1F , voltage-gated calcium channel subunit alpha Cav1.4 , calcium channel, voltage-dependent, alpha 1F subunit , calcium channel, voltage-dependent, L type, alpha 1F subunit , voltage-dependent L-type calcium channel subunit alpha-1F-like , L-type dihydropyridine-sensitive calcium channel alpha-1f subunit , LOW QUALITY PROTEIN: voltage-dependent L-type calcium channel subunit alpha-1F

GENE ID SPECIES
778 Homo sapiens
114493 Rattus norvegicus
465629 Pan troglodytes
480915 Canis lupus familiaris
509779 Bos taurus
559964 Danio rerio
715787 Macaca mulatta
793708 Danio rerio
100386041 Callithrix jacchus
100565753 Anolis carolinensis
54652 Mus musculus
100514745 Sus scrofa
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