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    GNS glucosamine (N-acetyl)-6-sulfatase [ Homo sapiens (human) ]

    Gene ID: 2799, updated on 8-Jul-2021

    Summary

    Official Symbol
    GNSprovided by HGNC
    Official Full Name
    glucosamine (N-acetyl)-6-sulfataseprovided by HGNC
    Primary source
    HGNC:HGNC:4422
    See related
    Ensembl:ENSG00000135677 MIM:607664
    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
    G6S
    Summary
    The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 76.5), kidney (RPKM 63.0) and 24 other tissues See more
    Orthologs
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    Genomic context

    See GNS in Genome Data Viewer
    Location:
    12q14.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (64713449..64759406, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65107229..65153186, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RASSF3 divergent transcript Neighboring gene Ras association domain family member 3 Neighboring gene microRNA 548c Neighboring gene microRNA 548z Neighboring gene TBC1 domain family member 30 Neighboring gene ribosomal protein L7 pseudogene 39 Neighboring gene long intergenic non-protein coding RNA 2389 Neighboring gene long intergenic non-protein coding RNA 2231 Neighboring gene RNA, U6atac small nuclear 42, 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

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of glucosamine (N-acetyl)-6-sulfatase (GNS) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC21274

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylglucosamine-6-sulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables N-acetylglucosamine-6-sulfatase activity TAS
    Traceable Author Statement
    more info
     
    enables glycosaminoglycan binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in keratan sulfate catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    N-acetylglucosamine-6-sulfatase
    Names
    glucosamine -6-sulfatase
    NP_002067.1

    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.

    Genomic

    1. NG_008955.1 RefSeqGene

      Range
      5041..50998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002076.4NP_002067.1  N-acetylglucosamine-6-sulfatase precursor

      See identical proteins and their annotated locations for NP_002067.1

      Status: REVIEWED

      Source sequence(s)
      BC012482, BX537363, DA333542
      Consensus CDS
      CCDS8970.1
      UniProtKB/Swiss-Prot
      P15586
      UniProtKB/TrEMBL
      A0A024RBC5, Q7Z3X3
      Related
      ENSP00000258145.3, ENST00000258145.8
      Conserved Domains (1) summary
      cd16147
      Location:46495
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)

    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_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      64713449..64759406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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