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; OMA:NHLRC1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	18,122,677 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	47,168,326 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; islet of Langerhans; ; muscle of thigh; ; right lobe of liver; ; superior frontal gyrus; ; stromal cell of endometrium; ; gastrocnemius muscle; ; Brodmann area 9; ; skin of leg; ; right adrenal gland;
	Top expressed in
	interventricular septum; ; dorsomedial hypothalamic nucleus; ; arcuate nucleus; ; median eminence; ; paraventricular nucleus of hypothalamus; ; ventromedial nucleus; ; ventral tegmental area; ; suprachiasmatic nucleus; ; habenula; ; subiculum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	metal ion binding; protein binding; ubiquitin protein ligase activity; ubiquitin-protein transferase activity; transferase activity;
Cellular component	perinuclear region of cytoplasm; cytosol; endoplasmic reticulum; 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187566 – Ensembl, May 2017
^ ^a ^b ^c 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 32590557.125-7&rft.date=2003-09&rft_id=https://api.semanticscholar.org/CorpusID:32590557#id-name=S2CID&rft_id=info:pmid/12958597&rft_id=info:doi/10.1038/ng1238&rft.aulast=Chan&rft.aufirst=EM&rft.au=Young, EJ&rft.au=Ianzano, L&rft.au=Munteanu, I&rft.au=Zhao, X&rft.au=Christopoulos, CC&rft.au=Avanzini, G&rft.au=Elia, M&rft.au=Ackerley, CA&rft.au=Jovic, NJ&rft.au=Bohlega, S&rft.au=Andermann, E&rft.au=Rouleau, GA&rft.au=Delgado-Escueta, AV&rft.au=Minassian, BA&rft.au=Scherer, SW&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
^ "Entrez Gene: NHLRC1 NHL repeat containing 1".

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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.16899-903&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241#id-name=PMC&rft_id=info:pmid/12477932&rft_id=info:doi/10.1073/pnas.242603899&rft_id=info:bibcode/2002PNAS...9916899M&rft.aulast=Strausberg&rft.aufirst=RL&rft.au=Feingold, EA&rft.au=Grouse, LH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
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 14574404.805-11&rft.date=2003&rft_id=info:pmid/14574404&rft_id=info:doi/10.1038/nature02055&rft_id=info:bibcode/2003Natur.425..805M&rft.aulast=Mungall&rft.aufirst=AJ&rft.au=Palmer, SA&rft.au=Sims, SK&rft_id=https://doi.org/10.1038%2Fnature02055&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
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 15489334.2121-7&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928#id-name=PMC&rft_id=info:pmid/15489334&rft_id=info:doi/10.1101/gr.2596504&rft.aulast=Gerhard&rft.aufirst=DS&rft.au=Wagner, L&rft.au=Feingold, EA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
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 22318884.982-6&rft.date=2006&rft_id=info:hdl/10261/71541&rft_id=https://api.semanticscholar.org/CorpusID:22318884#id-name=S2CID&rft_id=info:pmid/15781812&rft_id=info:doi/10.1212/01.WNL.0000154519.10805.F7&rft.aulast=Gómez-Abad&rft.aufirst=C&rft.au=Gómez-Garre, P&rft.au=Gutiérrez-Delicado, E&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
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 15930137.8501-6&rft.date=2005&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1150849#id-name=PMC&rft_id=info:pmid/15930137&rft_id=info:doi/10.1073/pnas.0503285102&rft.aulast=Gentry&rft.aufirst=MS&rft.au=Worby, CA&rft.au=Dixon, JE&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1150849&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
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 16115820.2727-36&rft.date=2006&rft_id=info:doi/10.1093/hmg/ddi306&rft_id=info:pmid/16115820&rft.aulast=Lohi&rft.aufirst=H&rft.au=Ianzano, L&rft.au=Zhao, XC&rft_id=https://doi.org/10.1093%2Fhmg%2Fddi306&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">
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 17337485.753-62&rft.date=2007&rft_id=info:doi/10.1093/hmg/ddm006&rft_id=info:pmid/17337485&rft.aulast=Mittal&rft.aufirst=S&rft.au=Dubey, D&rft.au=Yamakawa, K&rft.au=Ganesh, S&rft_id=https://doi.org/10.1093%2Fhmg%2Fddm006&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">

External links

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

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[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 32590557.125-7&rft.date=2003-09&rft_id=https://api.semanticscholar.org/CorpusID:32590557#id-name=S2CID&rft_id=info:pmid/12958597&rft_id=info:doi/10.1038/ng1238&rft.aulast=Chan&rft.aufirst=EM&rft.au=Young, EJ&rft.au=Ianzano, L&rft.au=Munteanu, I&rft.au=Zhao, X&rft.au=Christopoulos, CC&rft.au=Avanzini, G&rft.au=Elia, M&rft.au=Ackerley, CA&rft.au=Jovic, NJ&rft.au=Bohlega, S&rft.au=Andermann, E&rft.au=Rouleau, GA&rft.au=Delgado-Escueta, AV&rft.au=Minassian, BA&rft.au=Scherer, SW&rfr_id=info:sid/en.wikipedia.org:NHLRC1" class="Z3988">

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

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NHLRC1

Contents

See also

References

Further reading

External links