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

Gene ID: 4669, updated on 7-Apr-2025

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
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Genomic context

See NAGLU in Genome Data Viewer
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_000017.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit a1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40668625-40669124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8531 Neighboring gene microRNA 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40688565-40689302 Neighboring gene PTP4A2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12205 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-N-acetylglucosaminidase activity IEA
Inferred from Electronic Annotation
more info
 
enables alpha-N-acetylglucosaminidase activity TAS
Traceable Author Statement
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within Golgi organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within adult behavior IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within amyloid precursor protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within aorta development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within astrocyte activation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in carbohydrate derivative metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell surface receptor signaling pathway via STAT IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cerebellar Purkinje cell layer development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within collagen metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cone retinal bipolar cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cytoplasm organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endothelium development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within exploration behavior IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within ganglioside metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within glycoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within glycosaminoglycan metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within heart development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within heart valve development IEA
Inferred from Electronic Annotation
more info
 
involved_in heparan sulfate proteoglycan catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in heparan sulfate proteoglycan catabolic process TAS
Traceable Author Statement
more info
 
acts_upstream_of_or_within heparan sulfate proteoglycan metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within heparin proteoglycan metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within inflammatory response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within left ventricular cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within limb development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within liver development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within locomotor rhythm IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lysosome organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within maintenance of blood-brain barrier IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within microglia differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within microglial cell activation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within mitral valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within motor behavior IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within nerve development IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within neurogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuroinflammatory response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein processing IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within proteoglycan metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to disaccharide IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to wounding IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within retinal rod cell development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within rod bipolar cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within toll-like receptor 4 signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within vacuole organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within vasculature development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within vesicle tethering IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lysosomal lumen IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome TAS
Traceable Author Statement
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in vacuole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
alpha-N-acetylglucosaminidase
Names
N-acetylglucosaminidase, alpha
testicular tissue protein Li 18
NP_000254.2
XP_016880176.1
XP_024306539.1
XP_047292094.1
XP_047292095.1
XP_054172223.1
XP_054172224.1
XP_054172225.1
XP_054172226.1

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

  1. NG_011552.1 RefSeqGene

    Range
    5309..13517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000263.4NP_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:130465
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12971
    Location:42116
    NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain
    pfam12972
    Location:474729
    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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42536241..42544449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    Q14769
    Conserved Domains (3) summary
    pfam05089
    Location:149484
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12971
    Location:42115
    NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain
    pfam12972
    Location:493747
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
  2. XM_047436138.1XP_047292094.1  alpha-N-acetylglucosaminidase isoform X2

    UniProtKB/TrEMBL
    Q14769
  3. XM_017024687.2XP_016880176.1  alpha-N-acetylglucosaminidase isoform X3

    UniProtKB/TrEMBL
    Q59FD0
    Conserved Domains (2) summary
    pfam05089
    Location:2188
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12972
    Location:197452
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
  4. XM_047436139.1XP_047292095.1  alpha-N-acetylglucosaminidase isoform X4

    UniProtKB/TrEMBL
    Q59FD0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43393428..43401636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    Q14769
  2. XM_054316249.1XP_054172224.1  alpha-N-acetylglucosaminidase isoform X2

    UniProtKB/TrEMBL
    Q14769
  3. XM_054316250.1XP_054172225.1  alpha-N-acetylglucosaminidase isoform X3

    UniProtKB/TrEMBL
    Q59FD0
  4. XM_054316251.1XP_054172226.1  alpha-N-acetylglucosaminidase isoform X4

    UniProtKB/TrEMBL
    Q59FD0