Protein-coding gene in the species Homo sapiens
NHLRC1 Identifiers Aliases NHLRC1 , EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1External 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 right lobe of liver superior frontal gyrus stromal cell of endometrium gastrocnemius muscle Brodmann area 9 right adrenal gland putamen skeletal muscle tissue
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 Ensembl UniProt RefSeq (mRNA) RefSeq (protein) 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
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.[5] [6]
^ 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. ^ "Entrez Gene: NHLRC1 NHL repeat containing 1".
Last Update: 2023-03-03T23:28:02Z
repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene. NHL repeat GRCh38: Ensembl release 89: ENSG00000187566 – Ensembl,...
Word Count : 461
Last Update: 2024-04-26T21:05:37Z
gene mutation or an EPM2B (NHLRC1 ) gene mutation. 42% of the cases are caused by EPM2A and 58% are caused by EPM2B (NHLRC1 ). The most common mutation...
Word Count : 2694
Last Update: 2024-05-13T20:47:11Z
ribosomal protein S18B (6p21.33) MUT: methylmalonyl Coenzyme A mutase (6p12.3) NHLRC1 : NHL repeat containing E3 ubiquitin protein ligase 1 (6p22.3) NOL7: nucleolar...
Word Count : 2420
Last Update: 2023-12-03T15:57:31Z
S2CID 5091627. Chan EM, Young EJ, Ianzano L, et al. (October 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nature Genetics. 35 (2): 125–7. doi:10...
Word Count : 2507
Last Update: 2024-05-09T15:43:25Z
myoclonic, Lafora type; 254780; EPM2A Epilepsy, myoclonic, Lafora type; 254780; NHLRC1 Epilepsy, myoclonic, with mental retardation and spasticity; 300432; ARX...
Word Count : 18877
Global Information
