NHLRC1

NHLRC1
Identifiers
Aliases	NHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1
External IDs	OMIM: 608072 MGI: 2145264 HomoloGene: 18439 GeneCards: NHLRC1
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	18,122,677 bp[1]
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)[2]
End	47,014,850 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• metal ion binding; • GO:0001948 protein binding; • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity; • ubiquitin-protein transferase activity; • transferase activity;
Cellular component	• perinuclear region of cytoplasm; • cytosol; • endoplasmic reticulum; • cell nucleus;
Biological process	• autophagy; • protein polyubiquitination; • glycogen biosynthetic process; • positive regulation of protein ubiquitination; • protein ubiquitination; • proteasome-mediated ubiquitin-dependent protein catabolic process; • regulation of protein phosphorylation; • glycogen metabolic process; • regulation of gene expression; • regulation of protein ubiquitination; • response to endoplasmic reticulum stress; • cellular macromolecule metabolic process; • regulation of protein kinase activity; • regulation of protein localization to plasma membrane;
	Sources:Amigo / QuickGO
Orthologs
	378884
	105193
	ENSG00000187566
	ENSMUSG00000044231
	Q6VVB1
	Q8BR37
	NM_198586
	NM_175340
	NP_940988
	NP_780549
	Wikidata
View/Edit Human	View/Edit Mouse

NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.[5][6]

References

GRCh38: Ensembl release 89: ENSG00000187566 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000044231 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. S2CID 32590557.
"Entrez Gene: NHLRC1 NHL repeat containing 1".

External links

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

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. Bibcode:2003Natur.425..805M. 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. hdl:10261/71541. PMID 15781812. S2CID 22318884.
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. PMC 2564581. 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187566 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000044231 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12958597-5] 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. S2CID 32590557.

[entrez-6] "Entrez Gene: NHLRC1 NHL repeat containing 1".

NHLRC1

See also

References

External links

Further reading