NAGLU N-acetyl-alpha-glucosaminidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAGLUprovided by HGNC
Official Full Name: N-acetyl-alpha-glucosaminidaseprovided by HGNC
Primary source: HGNC:HGNC:7632
See related: Ensembl:ENSG00000108784 MIM:609701; AllianceGenome:HGNC:7632
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB
Summary: This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42536241..42544449)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43393428..43401636)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40688259..40696467)

Chromosome 17 - NC_000017.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variations of urinary N-acetyl-beta-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study.
Title: Variations of urinary N-acetyl-β-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study.
Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.
Title: Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.
Structural characterization of the NAGLU, a key enzyme in the pathogenesis of Sanfilippo syndrome B, has been reported.
Title: Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B.
we identified and characterised oncogenic fusion genes and their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2 as novel molecular targets for personalised medicine development.
Title: Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer.
Data reported the pathogenic missense mutations of NAGLU and CYP26B1 concurrent in one patient, which not only expands the phenotype and genotype spectra of NAGLU and CYP26B1, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient.
Title: Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
findings show that the NAGLU protein consists of a precursor and a mature form and that in slowly progressing mucopolysaccharidosis type IIIB patients' fibroblasts only the precursor protein is present at 37 degrees ; culturing at lower temperatures resulted in the formation of the mature, enzymatically active form, due to higher mRNA levels and improved processing
Title: Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests.
Title: A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
Mutation in NAGLU gene is associated with atypical mucopolysaccharidosis IIIB.
Title: Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
in the current meta-analysis, based on ten prospective studies involving 29366 participants, we evaluated the role of urinary tubular injury markers (NGAL, KIM-1 and NAG) in predicting clinical outcomes including CKD stage 3, end stage renal disease and mortality.
Title: Are Urinary Tubular Injury Markers Useful in Chronic Kidney Disease? A Systematic Review and Meta Analysis.
Mutations in NAGLU gene is associated with idiopathic progressive cognitive decline.
Title: "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2V MedGen: C5569050 OMIM: 616491 GeneReviews: Not available	Compare labs
Mucopolysaccharidosis, MPS-III-B MedGen: C0086648 OMIM: 252920 GeneReviews: Mucopolysaccharidosis Type III	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18065 (e-PCR)
- UniSTS:9904

PMC115182P5 (e-PCR)
- UniSTS:270290

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-N-acetylglucosaminidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IEA Inferred from Electronic Annotation more info
involved_in adult behavior	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein metabolic process	IEA Inferred from Electronic Annotation more info
involved_in aorta morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in astrocyte activation	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway via STAT	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in cerebellar Purkinje cell layer development	IEA Inferred from Electronic Annotation more info
involved_in collagen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cone retinal bipolar cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cytoplasm organization	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in endothelium development	IEA Inferred from Electronic Annotation more info
involved_in exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in ganglioside metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heparan sulfate proteoglycan catabolic process	TAS Traceable Author Statement more info
involved_in heparan sulfate proteoglycan metabolic process	IEA Inferred from Electronic Annotation more info
involved_in heparin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hormone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in left ventricular cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in limb development	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in locomotor rhythm	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in maintenance of blood-brain barrier	IEA Inferred from Electronic Annotation more info
involved_in microglia differentiation	IEA Inferred from Electronic Annotation more info
involved_in microglial cell activation	IEA Inferred from Electronic Annotation more info
involved_in middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitral valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in motor behavior	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in nerve development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in response to disaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEA Inferred from Electronic Annotation more info
involved_in retinal rod cell development	IEA Inferred from Electronic Annotation more info
involved_in rod bipolar cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in sequestering of iron ion	IEA Inferred from Electronic Annotation more info
involved_in superoxide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in toll-like receptor 4 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in vesicle tethering	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in lysosome	TAS Traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-N-acetylglucosaminidase

Names: N-acetylglucosaminidase, alpha; testicular tissue protein Li 18

NP_000254.2

EC 3.2.1.50

XP_016880176.1

EC 3.2.1.50

XP_024306539.1

EC 3.2.1.50

XP_047292094.1

EC 3.2.1.50

XP_047292095.1

EC 3.2.1.50

XP_054172223.1

EC 3.2.1.50

XP_054172224.1

EC 3.2.1.50

XP_054172225.1

EC 3.2.1.50

XP_054172226.1

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.

Genomic

NG_011552.1 RefSeqGene

Range

5309..13517

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000263.4 → NP_000254.2 alpha-N-acetylglucosaminidase precursor

See identical proteins and their annotated locations for NP_000254.2

Status: REVIEWED

Source sequence(s)

AI299657, BF435029, BQ012843, U40846

Consensus CDS

CCDS11427.1

UniProtKB/Swiss-Prot

P54802

UniProtKB/TrEMBL

A0A140VJE4, Q14769

Related

ENSP00000225927.1, ENST00000225927.7

Conserved Domains (3) summary

pfam05089
Location:130 → 465

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

pfam12971
Location:42 → 116

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

pfam12972
Location:474 → 729

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42536241..42544449

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450771.2 → XP_024306539.1 alpha-N-acetylglucosaminidase isoform X1

UniProtKB/TrEMBL

Q14769

Conserved Domains (3) summary

pfam05089
Location:149 → 484

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

pfam12971
Location:42 → 115

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

pfam12972
Location:493 → 747

NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
XM_047436138.1 → XP_047292094.1 alpha-N-acetylglucosaminidase isoform X2

UniProtKB/TrEMBL

Q14769
XM_017024687.2 → XP_016880176.1 alpha-N-acetylglucosaminidase isoform X3

UniProtKB/TrEMBL

Q59FD0

Conserved Domains (2) summary

pfam05089
Location:2 → 188

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

pfam12972
Location:197 → 452

NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
XM_047436139.1 → XP_047292095.1 alpha-N-acetylglucosaminidase isoform X4

UniProtKB/TrEMBL

Q59FD0

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

43393428..43401636

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316248.1 → XP_054172223.1 alpha-N-acetylglucosaminidase isoform X1

UniProtKB/TrEMBL

Q14769
XM_054316249.1 → XP_054172224.1 alpha-N-acetylglucosaminidase isoform X2

UniProtKB/TrEMBL

Q14769
XM_054316250.1 → XP_054172225.1 alpha-N-acetylglucosaminidase isoform X3

UniProtKB/TrEMBL

Q59FD0
XM_054316251.1 → XP_054172226.1 alpha-N-acetylglucosaminidase isoform X4

UniProtKB/TrEMBL

Q59FD0