NHLRC1

NHL repeat containing E3 ubiquitin protein ligase 1
Identifiers
Symbols	NHLRC1 ; EPM2A; EPM2B; MALIN; bA204B7.2
External IDs	OMIM: 608072 MGI: 2145264 HomoloGene: 18439 GeneCards: NHLRC1 Gene
Gene ontology Molecular function • ubiquitin-protein transferase activity • protein binding • zinc ion binding • ligase activity • ubiquitin protein ligase activity Cellular component • nucleus • endoplasmic reticulum • cytosol • perinuclear region of cytoplasm Biological process • protein polyubiquitination • carbohydrate metabolic process • glycogen biosynthetic process • glucose metabolic process • autophagy • positive regulation of protein ubiquitination • proteasome-mediated ubiquitin-dependent protein catabolic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	378884	105193
Ensembl	ENSG00000187566	ENSMUSG00000044231
UniProt	Q6VVB1	Q8BR37
RefSeq (mRNA)	NM_198586	NM_175340
RefSeq (protein)	NP_940988	NP_780549
Location (UCSC)	Chr 6: 18.12 – 18.12 Mb	Chr 13: 47.01 – 47.01 Mb
PubMed search

NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.^[1][2]

See also

• NHL repeat

References

1. Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW (Sep 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nat Genet 35 (2): 125–7. doi:10.1038/ng1238. PMID 12958597.
2. "Entrez Gene: NHLRC1 NHL repeat containing 1".

External links

• GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, et al. (2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study.". Neurology 64 (6): 982–6. doi:10.1212/01.WNL.0000154519.10805.F7. PMID 15781812.
• Gentry MS, Worby CA, Dixon JE (2005). "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 (24): 8501–6. doi:10.1073/pnas.0503285102. PMC 1150849. PMID 15930137.
• Lohi H, Ianzano L, Zhao XC, et al. (2006). "Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.". Hum. Mol. Genet. 14 (18): 2727–36. doi:10.1093/hmg/ddi306. PMID 16115820.
• Singh S, Sethi I, Francheschetti S, et al. (2007). "Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.". J. Med. Genet. 43 (9): e48. doi:10.1136/jmg.2005.039479. PMID 16950819.
• Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.". Hum. Mol. Genet. 16 (7): 753–62. doi:10.1093/hmg/ddm006. PMID 17337485.