Nhlrc1 NHL repeat containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nhlrc1provided by MGI
Official Full Name: NHL repeat containing 1provided by MGI
Primary source: MGI:MGI:2145264
See related: Ensembl:ENSMUSG00000044231 AllianceGenome:MGI:2145264
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EPM2B; B230309E09Rik
Summary: Enables ubiquitin protein ligase activity. Involved in glycogen biosynthetic process. Acts upstream of or within several processes, including glycogen metabolic 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. Orthologous to human NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 13 A5; 13 24.5 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (47166033..47168326, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (47012557..47014850, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Title: Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Title: Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Malin knockout mice develop Cardiac Hypertrophy and marked Systolic Dysfunction. Histological assessment showed abundant glycogen aggregates inside the cardiomyocytes, including typical Lafora bodies.
Title: Lafora Disease Is an Inherited Metabolic Cardiomyopathy.
The authors conclude that laforin's principle function is to control glycogen chain lengths, in a malin-dependent fashion, and that loss of this control underlies Lafora disease.
Title: Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
The present study analyzes possible inflammatory responses in the mouse lines Epm2a (-/-) (laforin knock-out) and Epm2b (-/-) (malin knock-out) with disease progression.
Title: Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.
that laforin and malin are novel regulators of mitochondrial quality control pathway and that the mitochondrial dysfunction resulting from the increased Drp1 levels could underlie neuropathology in Lafora disease
Title: Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.
Loss of malin leads to reduced proteasomal activity in the heat-shocked cells.
Title: Loss of malin, but not laforin, results in compromised autophagic flux and proteasomal dysfunction in cells exposed to heat shock.
This study also suggests a malin function independent of laforin, possibly in lysosomal biogenesis and/or lysosomal glycogen disposal.
Title: Protein degradation and quality control in cells from laforin and malin knockout mice.
Results indicate that malin has no effect on whole-body glucose metabolism and insulin sensitivity.
Title: Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.
Dysfunction of autophagy is a common feature of both laforin- and malin-deficient mice.
Title: Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycogen biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glycogen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycogen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macromolecule metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein localization to plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein ubiquitination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase NHLRC1

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

NP_780549.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_175340.4 → NP_780549.1 E3 ubiquitin-protein ligase NHLRC1

Status: VALIDATED

Source sequence(s)

AK045746, BC118952, BX514773, BY340986

Consensus CDS

CCDS26487.1

UniProtKB/Swiss-Prot

Q8BR37

UniProtKB/TrEMBL

Q0VF71

Related

ENSMUSP00000054990.3, ENSMUST00000052747.4

Conserved Domains (2) summary

cd14961
Location:120 → 394

NHL_TRIM32_like; NHL repeat domain of the tripartite motif-containing protein 32 (TRIM32) and related proteins

pfam14634
Location:27 → 75

zf-RING_5; zinc-RING finger domain