NHLRC1

NHL repeat containing 1
Identifiers
Symbols	NHLRC1; EPM2A; EPM2B; MALIN; MGC119262; MGC119264; MGC119265; bA204B7.2
External IDs	OMIM: 608072 MGI: 2145264 HomoloGene: 18439 GeneCards: NHLRC1 Gene
Gene Ontology Molecular function • ubiquitin-protein ligase activity • protein binding • zinc ion binding • ligase activity • metal ion binding Cellular component • nucleus • endoplasmic reticulum • perinuclear region of cytoplasm Biological process • protein polyubiquitination • positive regulation of protein ubiquitination • proteasomal ubiquitin-dependent protein catabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	378884	105193
Ensembl	ENSG00000187566	ENSMUSG00000044231
UniProt	Q6VVB1	Q0VF71
RefSeq (mRNA)	NM_198586.2	NM_175340.4
RefSeq (protein)	NP_940988.2	NP_780549.1
Location (UCSC)	Chr 6: 18.12 – 18.12 Mb	Chr 13: 47.11 – 47.11 Mb
PubMed search	[1]	[2]

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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=378884. 

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1150849. 
• 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.