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

Gene ID: 4669, updated on 8-Jul-2018
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; 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]
Expression
Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues See more
Orthologs
See NAGLU in Genome Data Viewer
Location:
17q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 protein tyrosine phosphatase type IVA, member 2 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • 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 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 
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

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
    UniProtKB/TrEMBL
    A0A140VJE4
    Related
    ENSP00000225927.1, OTTHUMP00000263726, ENST00000225927.6, OTTHUMT00000450385
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 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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