Nhlrc1 - NHL repeat containing 1 Gene

Mus musculus

Also known as EPM2B; B230309E09Rik

Gene ID: 105193 | Gene type: protein coding

About Nhlrc1

Summary

Enables ubiquitin protein Ligase activity. Acts upstream of or within several processes, including glycogen biosynthetic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and regulation of protein modification process. Located in nucleus and perinuclear region of cytoplasm. Used to study Lafora disease. Human ortholog(s) of this gene implicated in Lafora disease. Orthologous to human NHLRC1 (NHL repeat containing E3 ubiquitin protein Ligase 1). [provided by Alliance of Genome Resources, Apr 2022]

Nhlrc1 Products(1)

mRNA	Protein	Name
NM_175340.4	NP_780549.1	E3 ubiquitin-protein ligase NHLRC1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17908927	MGI
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	17908927	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within autophagy	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within glycogen biosynthetic process	IGI IGI: Inferred from genetic interaction	28536304	MGI
involved in glycogen biosynthetic process	IMP IMP: Inferred from mutant phenotype	20538597	MGI
acts upstream of or within glycogen metabolic process	IMP IMP: Inferred from mutant phenotype	23663739	MGI
acts upstream of or within macromolecule metabolic process	IMP IMP: Inferred from mutant phenotype	23663739	MGI
acts upstream of or within positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	17908927	MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of protein ubiquitination	IDA IDA: Inferred from direct assay	17908927	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within regulation of protein kinase activity	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within regulation of protein localization to plasma membrane	IGI IGI: Inferred from genetic interaction	26976331	MGI
acts upstream of or within regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within regulation of protein ubiquitination	IGI IGI: Inferred from genetic interaction	26976331	MGI
acts upstream of or within response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	19529779	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	17908927	MGI
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	17908927	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase NHLRC1

NHL repeat-containing protein 1	RING-type E3 ubiquitin transferase NHLRC1
malin

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09286	NHLRC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nhlrc1	NCBI	NCBI:378884

Name
Email *

	Sorry, but the email address you supplied was invalid.