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

Gene ID: 4669, updated on 10-Oct-2023

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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42536241..42544449)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43393428..43401636)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 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 cellular lipid catabolic process 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 receptor signaling pathway via STAT 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 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 

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_2023_10

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