NHLRC1

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

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)[1] Band 6p22.3 Start 18,120,440 bp[1] End 18,122,677 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A5 Start 47,166,033 bp[2] End 47,168,326 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 47.17 – 47.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

See also

• NHL repeat

References

1. GRCh38: Ensembl release 89: ENSG00000187566 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: NHLRC1 NHL repeat containing 1".

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. Bibcode:2002PNAS...9916899M. 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.

External links

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