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    Hgsnat heparan-alpha-glucosaminide N-acetyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 52120, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hgsnatprovided by MGI
    Official Full Name
    heparan-alpha-glucosaminide N-acetyltransferaseprovided by MGI
    Primary source
    MGI:MGI:1196297
    See related
    Ensembl:ENSMUSG00000037260 AllianceGenome:MGI:1196297
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tmem76; D8Ertd354e; 9430010M12Rik
    Summary
    Enables heparan-alpha-glucosaminide N-acetyltransferase activity. Involved in heparan sulfate proteoglycan catabolic process. Is active in lysosomal lumen. Is expressed in central nervous system; eye; and long bone epiphyseal plate. Used to study mucopolysaccharidosis III and mucopolysaccharidosis type IIIC. Human ortholog(s) of this gene implicated in mucopolysaccharidosis type IIIC and retinitis pigmentosa 73. Orthologous to human HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 12.4), subcutaneous fat pad adult (RPKM 10.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hgsnat in Genome Data Viewer
    Location:
    8 A2; 8 14.22 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (26432495..26466704, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (25944459..25976744, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_20984 Neighboring gene ASH2 like histone lysine methyltransferase complex subunit Neighboring gene STARR-positive B cell enhancer ABC_E9309 Neighboring gene potassium channel, subfamily U, member 1 Neighboring gene STARR-seq mESC enhancer starr_20986 Neighboring gene STARR-seq mESC enhancer starr_20989 Neighboring gene protein-O-mannose kinase Neighboring gene predicted gene, 31402 Neighboring gene farnesyltransferase, CAAX box, alpha

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Severe central nervous system demyelination in Sanfilippo disease. Taherzadeh M, et al. Front Mol Neurosci, 2023. PMID 38163061, Free PMC Article
    2. Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC. Ludwig J, et al. Exp Eye Res, 2023 Apr. PMID 36858249, Free PMC Article
    3. Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT. Pan X, et al. J Exp Med, 2022 Aug 1. PMID 35704026, Free PMC Article
    4. Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. Martins C, et al. Brain, 2015 Feb. PMID 25567323, Free PMC Article
    5. HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes. Nagel L, et al. Histol Histopathol, 2019 Dec. PMID 31157913

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hgsnat gene inactivation and heparan sulfate toxicity have an effect on the integrity of the renal corpuscle
      Title: HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6)  1 citation
    • Gene trapped (1) 
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables heparan-alpha-glucosaminide N-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparan-alpha-glucosaminide N-acetyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan catabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in lysosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosomal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein complex oligomerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein complex oligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in lysosomal lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    heparan-alpha-glucosaminide N-acetyltransferase
    Names
    transmembrane protein 76
    NP_084160.2

    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.

    mRNA and Protein(s)

    1. NM_029884.2 → NP_084160.2  heparan-alpha-glucosaminide N-acetyltransferase precursor

      Status: VALIDATED

      Source sequence(s)
      AC093366, AC122752
      Consensus CDS
      CCDS40309.1
      UniProtKB/Swiss-Prot
      E9QNP9, Q3TWK5, Q3UDW8, Q8CBU7, Q8CIE1
      Related
      ENSMUSP00000040356.8, ENSMUST00000037609.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      26432495..26466704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_133970.1: Suppressed sequence

      Description
      NM_133970.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UDW8.2 GenPept UniProtKB/Swiss-Prot:Q3UDW8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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