NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)

2014-11-01  

Identity

HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
EPM2A,EPM2B,MALIN,bA204B7.2

Other Information

Locus ID:

NCBI: 378884
MIM: 608072
HGNC: 21576
Ensembl: ENSG00000187566

Variants:

dbSNP: 378884
ClinVar: 378884
TCGA: ENSG00000187566
COSMIC: NHLRC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187566ENST00000340650Q6VVB1

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077

References

Pubmed IDYearTitleCitations
180708752008Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).63
180708752008Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).63
180293862008Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.56
161158202005Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.50
190367382009The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.34
195297792009Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.30
191719322009AMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-protein phosphatase 1 holoenzyme, and accelerates its down-regulation by the laforin-malin complex.25
192673912009Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.25
173374852007Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.24
222236372012Malin regulates Wnt signaling pathway through degradation of dishevelled2.20

Citation

Dessen P

NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70823/nhlrc1