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

Gene ID: 4669, updated on 8-May-2016
Official Symbol
NAGLUprovided by HGNC
Official Full Name
N-acetyl-alpha-glucosaminidaseprovided by HGNC
Primary source
HGNC:HGNC:7632
See related
Ensembl:ENSG00000108784 HPRD:02017; MIM:609701; Vega:OTTHUMG00000180240
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]
Orthologs
Location:
17q21
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (42535933..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 protein tyrosine phosphatase type IVA, member 2 pseudogene 1 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Glycosaminoglycan degradation, organism-specific biosystem (from KEGG)
    Glycosaminoglycan degradation, organism-specific biosystem
    Glycosaminoglycan degradation
  • Glycosaminoglycan degradation, conserved biosystem (from KEGG)
    Glycosaminoglycan degradation, conserved biosystem
    Glycosaminoglycan degradation
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • HS-GAG degradation, organism-specific biosystem (from REACTOME)
    HS-GAG degradation, organism-specific biosystemLysosomal degradation of glycoproteins is part of the cellular homeostasis of glycosylation (Winchester 2005). The steps outlined below describe the degradation of heparan sulfate/heparin. Complete d...
  • Heparan sulfate degradation, organism-specific biosystem (from KEGG)
    Heparan sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
  • Heparan sulfate degradation, conserved biosystem (from KEGG)
    Heparan sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
alpha-N-acetylglucosaminidase
Names
N-acetylglucosaminidase, alpha
testicular tissue protein Li 18
NP_000254.2

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
    5001..13517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000263.3NP_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
    Related
    ENSP00000225927, OTTHUMP00000263726, ENST00000225927, OTTHUMT00000450385
    Conserved Domains (3) summary
    pfam12971
    Location:42117
    NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain
    pfam05089
    Location:130467
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12972
    Location:473734
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    42535933..42544449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721920.2XP_006721983.1  

    Conserved Domains (2) summary
    pfam05089
    Location:5190
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12972
    Location:196457
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
  2. XM_011524840.1XP_011523142.1  

    Conserved Domains (2) summary
    pfam05089
    Location:8134
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12972
    Location:140401
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    40923793..40932309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)