Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 378884
MIM: 608072
HGNC: 21576
Ensembl: ENSG00000187566
Variants:
dbSNP: 378884
ClinVar: 378884
TCGA: ENSG00000187566
COSMIC: NHLRC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187566 | ENST00000340650 | Q6VVB1 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35569391 | 2022 | Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease. | 1 |
| 36142605 | 2022 | Identification of NHLRC1 as a Novel AKT Activator from a Lung Cancer Epigenome-Wide Association Study (EWAS). | 0 |
| 35569391 | 2022 | Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease. | 1 |
| 36142605 | 2022 | Identification of NHLRC1 as a Novel AKT Activator from a Lung Cancer Epigenome-Wide Association Study (EWAS). | 0 |
| 34117373 | 2021 | The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. | 0 |
| 34117373 | 2021 | The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. | 0 |
| 31758957 | 2020 | Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. | 15 |
| 31758957 | 2020 | Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. | 15 |
| 26102034 | 2015 | Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. | 4 |
| 26493215 | 2015 | The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2. | 13 |
| 26648032 | 2015 | Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. | 3 |
| 26102034 | 2015 | Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. | 4 |
| 26493215 | 2015 | The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2. | 13 |
| 26648032 | 2015 | Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. | 3 |
| 24068615 | 2014 | Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase. | 7 |
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-(nhl-repeat-containing-e3-ubiquitin-protein-ligase-1)
