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

Gene ID: 4669, updated on 4-Jan-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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 49
Process Evidence Code Pubs
involved_in Golgi organization  
involved_in adult behavior  
involved_in amyloid precursor protein metabolic process  
involved_in aorta morphogenesis  
involved_in astrocyte activation  
involved_in autophagy  
involved_in cardiac muscle cell development  
involved_in cell surface receptor signaling pathway via STAT  
involved_in cellular response to organic cyclic compound  
involved_in cellular response to oxidative stress  
involved_in cerebellar Purkinje cell layer development  
involved_in collagen metabolic process  
involved_in cone retinal bipolar cell differentiation  
involved_in cytoplasm organization  
involved_in determination of adult lifespan  
involved_in endothelium development  
involved_in exploration behavior  
involved_in ganglioside metabolic process  
involved_in hair follicle morphogenesis  
involved_in heparan sulfate proteoglycan catabolic process  
involved_in heparan sulfate proteoglycan metabolic process  
involved_in heparin metabolic process  
involved_in hormone metabolic process  
involved_in inner ear receptor cell development  
involved_in left ventricular cardiac muscle tissue morphogenesis  
involved_in limb development  
involved_in liver development  
involved_in locomotor rhythm  
involved_in lysosome organization  
involved_in maintenance of blood-brain barrier  
involved_in microglia differentiation  
involved_in microglial cell activation  
involved_in middle ear morphogenesis  
involved_in mitral valve morphogenesis  
involved_in motor behavior  
involved_in multicellular organismal-level iron ion homeostasis  
involved_in nerve development  
involved_in nervous system development PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
involved_in protein processing  
involved_in response to disaccharide  
involved_in response to lipopolysaccharide  
involved_in response to wounding  
involved_in retinal rod cell development  
involved_in rod bipolar cell differentiation  
involved_in sequestering of iron ion  
involved_in superoxide metabolic process  
involved_in toll-like receptor 4 signaling pathway  
involved_in vesicle tethering  
Items 1 - 25 of 49
Component Evidence Code Pubs
located_in extracellular exosome PubMed 
located_in extracellular exosome PubMed 
located_in lysosomal lumen  
located_in lysosome PubMed 
located_in membrane  

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
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