CACNA1S Proteine (CACNA1S)

Bezeichnung:
Calcium Channel, Voltage-Dependent, L Type, alpha 1S Subunit Proteine (CACNA1S)
Auf www.antikoerper-online.de finden Sie aktuell 6 Calcium Channel, Voltage-Dependent, L Type, alpha 1S Subunit (CACNA1S) Proteine von 3 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen CACNA1S Antikörper (57) und CACNA1S Kits (4) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 67 CACNA1S Produkte verfügbar.
Synonyme:
AW493108, ca(v)1.1, CACNA1S, CACNL1A3, caV1.1, Cchl1a3, fmd, HOKPP, HOKPP1, hypoPP, mdg, MHS5, sj, TTPP1
alle Proteine anzeigen Gen GeneID UniProt
CACNA1S 779 Q13698
CACNA1S 12292  
Ratte CACNA1S CACNA1S 682930  

Weitere Synonyme anzeigen

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Weitere Proteine zu CACNA1S Interaktionspartnern

Human Calcium Channel, Voltage-Dependent, L Type, alpha 1S Subunit (CACNA1S) Interaktionspartner

  1. Study identified by exome sequencing both recessive and dominant CACNA1S mutations as a cause of a congenital myopathy characterized by peculiar morphological hallmarks in a cohort of 11 patients from 7 families.

  2. whole-exome next-generation sequencing was used to identify a mutation in the CACNA1S gene, R900S, which is a rare mutation associated with hypokalemic periodic paralysis; study provides further evidence for the phenotypic variation and pharmacogenomics of hypokalemic periodic paralysis

  3. These results provide new insights into the role of muscle-specific (zeige EIF3K Proteine) proteins on the structural arrangement of alpha1S intracellular loops and point to a new conformational effect of the beta1a subunit in supporting skeletal muscle excitation-contraction coupling.

  4. CACNA1S and SCN4A (zeige SCN4A Proteine) mutations are relatively rare in patients with hypokalemic periodic paralysis

  5. The authors found one and three rare variants of unknown significance in CACNA1S in the Malignant Hyperthermia and Exertional Heat cohorts

  6. Defects in the genes coding for the skeletal muscle ryanodine receptor (zeige RYR1 Proteine) and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia.

  7. Aberrant splicing of Cav (zeige CA5A Proteine) 1.1 may alter intracellular Ca(2 (zeige CA2 Proteine)+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2 (zeige CA2 Proteine)+) handling in DM1 (zeige DMPK Proteine) and DM2 (zeige CNBP Proteine) may explain their distinct sarcolemmal hyperexcitabilities.

  8. Exome sequencing revealed one rare cacna1s nonsynonymous variant in a family with malignant hyperthermia

  9. Data indicate that the presence of either one of these JP-45 (zeige JSRP1 Proteine) variants decreased the sensitivity of the dihydropyridine receptor DHPR (zeige QDPR Proteine) to activation.

  10. Affected members of a 5-generation Chinese family with hypokalemic periodic paralysis patients had a novel His916Gln mutation in all male HypoPP patients of the family. Penetrance of the mutation was complete in male carriers, but not female carriers.

Mouse (Murine) Calcium Channel, Voltage-Dependent, L Type, alpha 1S Subunit (CACNA1S) Interaktionspartner

  1. TnT3 regulates transcription of Cacna1s, the gene encoding Cav1.1. Knocking down TnT3 in vivo downregulated Cav1.1.

  2. mutating residue E4242 affects RyR1 (zeige RYR1 Proteine) structures critical for retrograde communication with CaV1.1

  3. These results provide new insights into the role of muscle-specific (zeige EIF3K Proteine) proteins on the structural arrangement of alpha1S intracellular loops and point to a new conformational effect of the beta1a subunit in supporting skeletal muscle excitation-contraction coupling.

  4. Events occurring locally in the skeletal muscle of SOD1 mutant mice contribute to the impairment of CaV1.1 function in ALS muscle independently of innervation status.

  5. Knockdown of Cav1.1 channels in T cells abrogated calcium entry after TCR stimulation, suggesting that Cav1.1 channels are controlled by T cell receptor signaling

  6. Treatment of MSC (zeige MSC Proteine) with BMP4 (zeige BMP4 Proteine) caused a significant increase in expression of Cav1.2 (zeige CACNA1C Proteine), a delay in expression of Cav1.1, and a reduction in the duration of calcium transients when extracellular calcium was removed

  7. This study delineates a previously uncharacterized CaV1.1-mediated pathway that regulates energy utilization in skeletal muscle.

  8. Raptor (zeige RPTOR Proteine) ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.

  9. amino-termini of Rad and Rem (zeige REM1 Proteine) as the structural elements dictating the specific modes of inhibition of CaV1.1

  10. the localization and stability of Cacna1s depend on the expression of mGluR6 (zeige GRM6 Proteine) and its cascade components, and they suggest that Cacna1s is part of the mGluR6 (zeige GRM6 Proteine) complex.

CACNA1S Protein Überblick

Protein Überblick

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.

Alternative names and synonyms associated with CACNA1S

  • calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S)
  • calcium channel, voltage-dependent, L type, alpha 1S subunit (cacna1s)
  • calcium channel, voltage-dependent, L type, alpha 1S subunit (Cacna1s)
  • AW493108 Protein
  • ca(v)1.1 Protein
  • CACNA1S Protein
  • CACNL1A3 Protein
  • caV1.1 Protein
  • Cchl1a3 Protein
  • fmd Protein
  • HOKPP Protein
  • HOKPP1 Protein
  • hypoPP Protein
  • mdg Protein
  • MHS5 Protein
  • sj Protein
  • TTPP1 Protein

Bezeichner auf Proteinebene für CACNA1S

calcium channel, voltage-dependent, L type, alpha 1S subunit , voltage-dependent L type calcium channel alpha 1S subunit , voltage-dependent L-type calcium channel subunit alpha-1S , transverse tubule dihydropyridine receptor alpha 1 subunit , calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis) , dihydropyridine receptor , dihydropyridine-sensitive L-type calcium channel alpha-1 subunit , voltage-gated calcium channel subunit alpha Cav1.1 , calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle , DHPR alpha1s , dihydropyridine receptor alpha 1S , muscle dysgenesis , ROB1 , L-type calcium channel, alpha 1 subunit , voltage-gated calcium channel alpha 1S subunit

GENE ID SPEZIES
469635 Pan troglodytes
490244 Canis lupus familiaris
654399 Felis catus
100034092 Equus caballus
100381134 Xenopus laevis
100734741 Cavia porcellus
779 Homo sapiens
100009585 Oryctolagus cuniculus
12292 Mus musculus
682930 Rattus norvegicus
395985 Gallus gallus
100286866 Sus scrofa
100337204 Bos taurus
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