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

Gene ID: 4669, updated on 1-Aug-2020

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
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

Genomic context

See NAGLU in Genome Data Viewer
Location:
17q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42534238..42544449)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40687951..40696467)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit a1 Neighboring gene microRNA 5010 Neighboring gene PTP4A2 pseudogene 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter Neighboring gene uncharacterized LOC108783654 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-N-acetylglucosaminidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cerebellar Purkinje cell layer development IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
 
locomotor rhythm IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
retinal rod cell development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
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_006721983.1
XP_016880176.1
XP_024306539.1
XP_024306540.1

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    42534238..42544449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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_006721920.2XP_006721983.1  alpha-N-acetylglucosaminidase isoform X2

    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
  3. XM_017024687.1XP_016880176.1  alpha-N-acetylglucosaminidase isoform X2

    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_024450772.1XP_024306540.1  alpha-N-acetylglucosaminidase isoform X3

    Conserved Domains (2) summary
    pfam05089
    Location:8132
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12972
    Location:141395
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
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