Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nagluprovided by MGI
Official Full Name: alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)provided by MGI
Primary source: MGI:MGI:1351641
See related: Ensembl:ENSMUSG00000001751 AllianceGenome:MGI:1351641
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
Summary: Enables alpha-N-acetylglucosaminidase activity. Involved in heparan sulfate proteoglycan catabolic process. Acts upstream of or within several processes, including circulatory system development; nervous system development; and proteolysis. Is active in lysosomal lumen. Used to study mucopolysaccharidosis III; mucopolysaccharidosis type IIIB; and otitis media. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2V; mucopolysaccharidosis III; and mucopolysaccharidosis type IIIB. Orthologous to human NAGLU (N-acetyl-alpha-glucosaminidase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in ovary adult (RPKM 54.9), adrenal adult (RPKM 46.7) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 64.15 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100960918..100968483)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (101070090..101077672)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.
Title: Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.
In the 1-h test, MPS IIIB mice were hyperactive, with increased rapid exploratory behaviour and reduced immobility time.
Title: Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments.
Our results demonstrate the advantages of intravenously administering hUCB cells into a mouse model of Sanfilippo Syndrome type B, the advantages probably a result of Naglu delivery to enzyme-deficient organs.
Title: Intravenous administration of human umbilical cord blood cells in an animal model of MPS III B.
Disruption of the Naglu gene responsible for heparan sulfate degradation results in substantial changes in expression of genes related to neural cell growth and function.
Title: Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 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 alpha-N-acetylglucosaminidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within amyloid precursor protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within astrocyte activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell surface receptor signaling pathway via STAT	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to organic cyclic compound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell layer development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cone retinal bipolar cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytoplasm organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endothelium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ganglioside metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycoprotein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycosaminoglycan metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heparan sulfate proteoglycan metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heparan sulfate proteoglycan metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heparin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hormone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within left ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotor rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microglia differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microglial cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nerve development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuroinflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteoglycan metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to disaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to wounding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal rod cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rod bipolar cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sequestering of iron ion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within superoxide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within toll-like receptor 4 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vacuole organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vacuole organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle tethering	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal lumen	IDA Inferred from Direct Assay more info	PubMed
is_active_in vacuole	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: alpha-N-acetylglucosaminidase

Names: N-acetyl-glucosaminidase; alpha-N-acetylglucosaminidase, lysosomal

NP_001412412.1

EC 3.2.1.50

NP_001412413.1

EC 3.2.1.50

NP_001412414.1

EC 3.2.1.50

NP_001412415.1

EC 3.2.1.50

NP_038820.2

EC 3.2.1.50

XP_006533528.1

EC 3.2.1.50

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_001425483.1 → NP_001412412.1 alpha-N-acetylglucosaminidase isoform 2

Status: VALIDATED

Source sequence(s)

BX255926, FQ790374
NM_001425484.1 → NP_001412413.1 alpha-N-acetylglucosaminidase isoform 3

Status: VALIDATED

Source sequence(s)

BX255926, FQ790374
NM_001425485.1 → NP_001412414.1 alpha-N-acetylglucosaminidase isoform 4

Status: VALIDATED

Source sequence(s)

BX255926, FQ790374
NM_001425486.1 → NP_001412415.1 alpha-N-acetylglucosaminidase isoform 5

Status: VALIDATED

Source sequence(s)

BX255926, FQ790374
NM_013792.3 → NP_038820.2 alpha-N-acetylglucosaminidase isoform 1 precursor

See identical proteins and their annotated locations for NP_038820.2

Status: VALIDATED

Source sequence(s)

BX255926, FQ790374

Consensus CDS

CCDS25444.1

UniProtKB/TrEMBL

O54752, O88325

Related

ENSMUSP00000001802.10, ENSMUST00000001802.10

Conserved Domains (3) summary

pfam05089
Location:128 → 463

NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain

pfam12971
Location:28 → 114

NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain

pfam12972
Location:472 → 727

NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

100960918..100968483

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533465.4 → XP_006533528.1 alpha-N-acetylglucosaminidase isoform X2

Conserved Domains (2) summary

pfam05089
Location:16 → 226

NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain

pfam12972
Location:235 → 489

NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain