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    Hgsnat heparan-alpha-glucosaminide N-acetyltransferase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361165, updated on 13-Apr-2024

    Summary

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    Symbol
    Hgsnatprovided by RGD
    Full Name
    heparan-alpha-glucosaminide N-acetyltransferaseprovided by RGD
    Primary source
    RGD:1560755
    See related
    Ensembl:ENSRNOG00000069796 AllianceGenome:RGD:1560755
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1560755
    Summary
    Predicted to enable acyltransferase activity. Predicted to be involved in lysosomal transport and protein complex oligomerization. Predicted to be located in lysosomal membrane. 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, Apr 2022]
    Expression
    Biased expression in Brain (RPKM 116.2), Lung (RPKM 109.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Hgsnat in Genome Data Viewer
    Location:
    16q12.4
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 16 NC_086034.1 (72807967..72840180)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 16 NC_051351.1 (66105233..66137444)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 16 NC_005115.4 (70876557..70909443)

    Chromosome 16 - NC_086034.1Genomic Context describing neighboring genes Neighboring gene farnesyltransferase, CAAX box, subunit alpha Neighboring gene protein-O-mannose kinase Neighboring gene translocase of inner mitochondrial membrane 23, pseudogene 5 Neighboring gene potassium calcium-activated channel subfamily U member 1 Neighboring gene uncharacterized LOC120097390 Neighboring gene ASH2 like histone lysine methyltransferase complex subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. Feldhammer M, et al. PLoS One, 2009 Oct 13. PMID 19823584, Free PMC Article
    2. Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. Durand S, et al. J Biol Chem, 2010 Oct 8. PMID 20650889, Free PMC Article
    3. Integral and associated lysosomal membrane proteins. Schröder B, et al. Traffic, 2007 Dec. PMID 17897319
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC108996

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables acyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heparan-alpha-glucosaminide N-acetyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosomal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein complex oligomerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in lysosomal lumen ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    heparan-alpha-glucosaminide N-acetyltransferase
    Names
    RGD1560755 protein-like
    NP_001389399.1
    XP_056840862.1

    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_001402470.1 → NP_001389399.1  heparan-alpha-glucosaminide N-acetyltransferase precursor

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000016
      UniProtKB/TrEMBL
      A6IVZ9
      Related
      ENSRNOP00000092597.1, ENSRNOT00000110809.1

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086034.1 Reference GRCr8

      Range
      72807967..72840180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_056984882.2 → XP_056840862.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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