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

    Gene ID: 4669, updated on 8-Jul-2021

    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
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    Genomic context

    See NAGLU in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42534238..42544449)
    105.20201022 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 microRNA 5010 Neighboring gene PTP4A2 pseudogene 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter 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

    Homology

    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 cerebellar Purkinje cell layer development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in inner ear receptor cell 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 middle ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in retinal rod cell development 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_006721983.1
    XP_016880176.1
    XP_024306539.1
    XP_024306540.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 Updated Annotation Release 109.20210514

    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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