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NHL Repeat Containing Protein 1 (NHLRC1)

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EPM2A; EPM2B; Malin; Epilepsy,Progressive Myoclonus Type 2B; E3 ubiquitin-protein ligase NHLRC1

NHL Repeat Containing Protein 1 (NHLRC1)
CCC L951
HGNC 21576
MGI 2145264
PubMed 18311786
RGD 735081
UniProt Q6VVB1
Wiki NHLRC1
The NHLRC1 gene encodes malin, a single subunit E3 ubiquitin (UBB) ligase, which contains a RING-HC-type zinc finger and 6 NHL domains and is subclassified as a member of the RING-HCa family.The gene is predicted to encode a 395-amino acid protein, termed malin ('mal' for seizure in French), containing a zinc finger of the RING type and 6 NHL-repeat protein-protein interaction domains. The presence of the RING finger predicts an E3 ubiquitin ligase function. Northern blot analysis indicated 2 transcripts of 1.5 kb and 2.4 kb in all tissues examined, including multiple subregions of the brain. In cultured cells, malin was localized at the endoplasmic reticulum and, to a lesser extent, in the nucleus. These results were similar to those observed for laforin (EPM2A).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant NHL Repeat Containing Protein 1 (NHLRC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to NHL Repeat Containing Protein 1 (NHLRC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to NHL Repeat Containing Protein 1 (NHLRC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for NHL Repeat Containing Protein 1 (NHLRC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for NHL Repeat Containing Protein 1 (NHLRC1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant NHL Repeat Containing Protein 1 (NHLRC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to NHL Repeat Containing Protein 1 (NHLRC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to NHL Repeat Containing Protein 1 (NHLRC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for NHL Repeat Containing Protein 1 (NHLRC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for NHL Repeat Containing Protein 1 (NHLRC1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant NHL Repeat Containing Protein 1 (NHLRC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to NHL Repeat Containing Protein 1 (NHLRC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to NHL Repeat Containing Protein 1 (NHLRC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for NHL Repeat Containing Protein 1 (NHLRC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for NHL Repeat Containing Protein 1 (NHLRC1) ELISA Kit Customized Service Offer
  1. "Mutations in NHLRC1 cause progressive myoclonus epilepsy."Nat. Genet. 35:125-127(2003) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin."Proc. Natl. Acad. Sci. U.S.A. 102:8501-8506(2005) [PubMed] [Europe PMC] [Abstract]
  5. "A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease."Genes Dev. 21:2399-2409(2007) [PubMed] [Europe PMC] [Abstract]
  6. "Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)."J. Biol. Chem. 283:4069-4076(2008) [PubMed] [Europe PMC] [Abstract]
  7. "The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system."Hum. Mol. Genet. 18:688-700(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex."Int. J. Biochem. Cell Biol. 45:1479-1488(2013) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population."J. Hum. Genet. 50:347-352(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Lafora disease due to EPM2B mutations: a clinical and genetic study."Neurology 64:982-986(2005) [PubMed] [Europe PMC] [Abstract]
  11. "Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin."Hum. Mutat. 29:E1-12(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism."J. Mol. Med. 89:915-925(2011) [PubMed] [Europe PMC] [Abstract]