NHL Repeat Containing 1 Proteine (NHLRC1)

The protein encoded by NHLRC1 is a single subunit E3 ubiquitin ligase. Zusätzlich bieten wir Ihnen NHLRC1 Antikörper (114) und NHLRC1 Kits (5) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
NHLRC1 378884 Q6VVB1
NHLRC1 105193 Q8BR37
NHLRC1 364682 Q6IMG5
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Showing 4 out of 4 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Lieferzeit Preis Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 50 Days
$6,749.58
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Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 50 Days
$6,749.58
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Wheat germ Human GST tag 10 μg 11 bis 12 Tage
$414.29
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Hefe Ratte His tag   1 mg 60 bis 71 Tage
$3,094.67
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NHLRC1 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human ,
,
Mouse (Murine)

Rat (Rattus)

Weitere Proteine zu NHL Repeat Containing 1 (NHLRC1) Interaktionspartnern

Human NHL Repeat Containing 1 (NHLRC1) Interaktionspartner

  1. Malin promotes its own degradation via auto-ubiquitination.Malin preferentially degrades the phosphatase-inactive laforin monomer.

  2. laforin/malin complex is able to interact with and ubiquitinate both PKM1 and PKM2

  3. Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.

  4. This study demonistrated that NHLRC1 mutations were detected in some case of Mild Lafora disease patients.

  5. Without functional laforin-malin complex assembled on polyglucosan bodies, polyglucosan is not degraded.

  6. Malin regulates the recruitment of mRNA-decapping enzyme 1A (Dcp1a) to processing bodies.

  7. Malin forms a functional complex with laforin. This complex promotes the ubiquitination of proteins involved in glycogen metabolism and misregulation of pathways involved in this process results in Lafora body formation. (Review)

  8. This study identified that NHLRC1 gene mutations leading to Lafora disease in six Turkish families.

  9. Our results indicate that malin regulates Wnt signaling pathway through the degradation of dishevelled2 and suggest possible deregulation of Wnt signaling in Lafora disease.

  10. Mutations in the NHL repeat containing 1 (NHLRC1) gene are described in association with a more benign clinical course and later age of death in an adolescent patient.

  11. Laforin and malin are defective in Lafora disease (LD), a neurodegenerative disorder associated with epileptic seizures

  12. malin(C46Y), malin(P69A), malin(D146N), and malin(L261P) mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis.

  13. malin negatively regulates neuronatin and its loss of function in Lafora disease results in increased accumulation of neuronatin

  14. Malin is related to TRIM32 at both the phylogenetic and functional level.

  15. study described several novel mutations of EPM2A and NHLRC1 and brought additional data to genetic epidemiology of Lafora disease (LD); emphasized the high mutation rate in patients with classical LD as well as the high negativity rate of skin biopsy

  16. These results suggest that the modification introduced by the laforin-malin complex could affect the subcellular distribution of AMPK beta subunits.

  17. the co-chaperone carboxyl terminus of the Hsc70-interacting protein (CHIP) stabilizes malin by modulating the activity of Hsp70.

  18. Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy

  19. Genetic allelic heterogeneity is present in Lafora disease associated with mutations in EPM2B. Patients with mutations in EPM2A and EPM2B express similar clinical manifestation.

  20. Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Mouse (Murine) NHL Repeat Containing 1 (NHLRC1) Interaktionspartner

  1. Malin knockout mice develop Cardiac Hypertrophy and marked Systolic Dysfunction. Histological assessment showed abundant glycogen aggregates inside the cardiomyocytes, including typical Lafora bodies.

  2. The authors conclude that laforin's principle function is to control glycogen chain lengths, in a malin-dependent fashion, and that loss of this control underlies Lafora disease.

  3. The present study analyzes possible inflammatory responses in the mouse lines Epm2a (-/-) (laforin knock-out) and Epm2b (-/-) (malin knock-out) with disease progression.

  4. that laforin and malin are novel regulators of mitochondrial quality control pathway and that the mitochondrial dysfunction resulting from the increased Drp1 levels could underlie neuropathology in Lafora disease

  5. Loss of malin leads to reduced proteasomal activity in the heat-shocked cells.

  6. This study also suggests a malin function independent of laforin, possibly in lysosomal biogenesis and/or lysosomal glycogen disposal.

  7. Results indicate that malin has no effect on whole-body glucose metabolism and insulin sensitivity.

  8. Dysfunction of autophagy is a common feature of both laforin- and malin-deficient mice.

  9. malin functions to regulate laforin and that malin deficiency at least in part causes LB and LD through increased laforin binding to glycogen.

  10. Results show that a functional laforin-malin complex plays a critical role in disrupting Lafora bodies and relieving endoplasmic reticulum stres.

  11. Motor coordination, activity impairment, and memory deficits progressively increase with age in Epm2b deficient mice.

  12. Data conclude that EPM2B functions to maintain laforin associated with soluble glycogen and that its absence causes sequestration of laforin to an insoluble polysaccharide fraction where it is functionally inert.

  13. laforin and malin play a role protecting cells from ER-stress, likely contributing to the elimination of unfolded proteins

NHLRC1 Protein Überblick

Protein Überblick

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).

Genbezeichner und Symbole assoziert mit NHLRC1

  • NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1)
  • NHL repeat containing 1 (Nhlrc1)
  • NHL repeat containing E3 ubiquitin protein ligase 1 (Nhlrc1)
  • AI505271 Protein
  • B230309E09Rik Protein
  • bA204B7.2 Protein
  • EPM2A Protein
  • Epm2b Protein
  • MALIN Protein
  • malin-like Protein

Bezeichner auf Proteinebene für NHLRC1

E3 ubiquitin-protein ligase NHLRC1 , NHL repeat-containing protein 1 , malin , NHL repeat containing 1 , NHL repeat-containing protein 1-like

GENE ID SPEZIES
378884 Homo sapiens
105193 Mus musculus
364682 Rattus norvegicus
428477 Gallus gallus
474161 Canis lupus familiaris
538814 Bos taurus
704451 Macaca mulatta
747581 Pan troglodytes
100066209 Equus caballus
100341052 Oryctolagus cuniculus
100443623 Pongo abelii
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