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    HGSNAT heparan-alpha-glucosaminide N-acetyltransferase [ Homo sapiens (human) ]

    Gene ID: 138050, updated on 16-Jul-2021

    Summary

    Official Symbol
    HGSNATprovided by HGNC
    Official Full Name
    heparan-alpha-glucosaminide N-acetyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:26527
    See related
    Ensembl:ENSG00000165102 MIM:610453
    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
    RP73; HGNAT; MPS3C; TMEM76
    Summary
    This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
    Expression
    Ubiquitous expression in skin (RPKM 11.5), gall bladder (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HGSNAT in Genome Data Viewer
    Location:
    8p11.21-p11.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (43140449..43202855)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42995607..43057998)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene farnesyltransferase, CAAX box, alpha Neighboring gene RNA, U1 small nuclear 124, pseudogene Neighboring gene protein O-mannose kinase Neighboring gene RNY5 pseudogene 6 Neighboring gene vomeronasal 1 receptor 45 pseudogene Neighboring gene vomeronasal 1 receptor 46 pseudogene

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22242, FLJ32731, DKFZp686G24175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparan-alpha-glucosaminide N-acetyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in lysosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lysosomal transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein complex oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    heparan-alpha-glucosaminide N-acetyltransferase
    Names
    transmembrane protein 76
    NP_001350156.1
    NP_001350157.1
    NP_001350158.1
    NP_689632.2
    XP_005273466.1
    XP_005273468.1
    XP_005273469.1

    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_009552.1 RefSeqGene

      Range
      5016..67407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363227.2NP_001350156.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC113191, BC042037, BC056149, BE327420, BM785837, DA395558, DB128369
      Conserved Domains (1) summary
      cl21495
      Location:239664
      Acyl_transf_3; Acyltransferase family
    2. NM_001363228.2NP_001350157.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC113191, BC042037, BC056149, BE327420, BM785837, CV569400, DA395558, DB128369
      Conserved Domains (1) summary
      cl21495
      Location:264571
      DUF418; Protein of unknown function (DUF418)
    3. NM_001363229.2NP_001350158.1  heparan-alpha-glucosaminide N-acetyltransferase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC113191, BC042037, BC056149, BE327420, BM785837, DA370456, DA395558, DB128369
      Conserved Domains (1) summary
      cl21495
      Location:2347
      Acyl_transf_3; Acyltransferase family
    4. NM_152419.3NP_689632.2  heparan-alpha-glucosaminide N-acetyltransferase isoform 1 precursor

      See identical proteins and their annotated locations for NP_689632.2

      Status: REVIEWED

      Source sequence(s)
      AC113191, BC042037, BC056149, BE327420, DA395558, DB128369
      Consensus CDS
      CCDS47852.1
      UniProtKB/Swiss-Prot
      Q68CP4
      UniProtKB/TrEMBL
      Q8IVU6
      Related
      ENSP00000368965.4, ENST00000379644.9
      Conserved Domains (1) summary
      cl21495
      Location:239635
      Acyl_transf_3; Acyltransferase family

    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_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      43140449..43202855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273409.1XP_005273466.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X1

      Conserved Domains (1) summary
      cl21495
      Location:239672
      DUF418; Protein of unknown function (DUF418)
    2. XM_005273411.1XP_005273468.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X3

      Conserved Domains (1) summary
      cl21495
      Location:264608
      DUF418; Protein of unknown function (DUF418)
    3. XM_005273412.4XP_005273469.1  heparan-alpha-glucosaminide N-acetyltransferase isoform X5

      Conserved Domains (1) summary
      cl21495
      Location:239486
      DUF418; Protein of unknown function (DUF418)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025070.1: Suppressed sequence

      Description
      NM_025070.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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