NHLRC1
| NHLRC1 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | NHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1 | |||||
| External IDs | MGI: 2145264 HomoloGene: 18439 GeneCards: NHLRC1 | |||||
| RNA expression pattern | ||||||
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| More reference expression data | ||||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 6: 18.12 – 18.12 Mb | Chr 13: 47.01 – 47.01 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.[3][4]
See also
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ 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.
- ↑ "Entrez Gene: NHLRC1 NHL repeat containing 1".
External links
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.
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