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    SGSH N-sulfoglucosamine sulfohydrolase [ Homo sapiens (human) ]

    Gene ID: 6448, updated on 2-May-2024

    Summary

    Official Symbol
    SGSHprovided by HGNC
    Official Full Name
    N-sulfoglucosamine sulfohydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:10818
    See related
    Ensembl:ENSG00000181523 MIM:605270; AllianceGenome:HGNC:10818
    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
    HSS; SFMD; MPS3A
    Summary
    This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
    Expression
    Ubiquitous expression in spleen (RPKM 9.6), adrenal (RPKM 9.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SGSH in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (80200673..80220333, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (81101075..81120754, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78183075..78194132, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78083610-78084585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78086615-78087127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78091523-78092024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78097302-78097924 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:78107357-78107522 Neighboring gene alpha glucosidase Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78120154-78120868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78120869-78121581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78121582-78122295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78122296-78123008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78126203-78126704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78126705-78127204 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:78129355-78129892 Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene Sharpr-MPRA regulatory region 5287 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:78151904-78153103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78163065-78163581 Neighboring gene caspase recruitment domain family member 14 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:78178385-78179584 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:78183891-78184046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78195951-78196788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78196789-78197626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78200105-78200606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78209849-78210638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78210639-78211426 Neighboring gene solute carrier family 26 member 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78227308-78228024 Neighboring gene SLC26A11-RNF213 intergenic CAGE-defined mid-level expression enhancer Neighboring gene CRISPRi-validated cis-regulatory element chr17.5742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78237270-78237826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78247837-78248435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78251821-78252439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78258533-78259093 Neighboring gene ring finger protein 213 Neighboring gene RNF213 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:78345568-78346767 Neighboring gene MPRA-validated peak3024 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78354122-78354622 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:78359110-78360309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78369069-78369570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78371216-78371723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78371724-78372230

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-sulfoglucosamine sulfohydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables N-sulfoglucosamine sulfohydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables N-sulfoglucosamine sulfohydrolase activity TAS
    Traceable Author Statement
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycosaminoglycan catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycosaminoglycan catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heparan sulfate proteoglycan catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heparan sulfate proteoglycan catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heparan sulfate proteoglycan catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    N-sulphoglucosamine sulphohydrolase
    Names
    heparan sulfate sulfatase
    mucopolysaccharidosis type IIIA
    sulfoglucosamine sulfamidase
    sulphamidase
    NP_000190.1
    NP_001339850.1
    NP_001339851.1
    XP_011523428.1
    XP_054172894.1

    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_008229.2 RefSeqGene

      Range
      5000..16057
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000199.5NP_000190.1  N-sulphoglucosamine sulphohydrolase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000190.1

      Status: REVIEWED

      Source sequence(s)
      BP198470, BU685248, DC319407, U30894
      Consensus CDS
      CCDS11770.1
      UniProtKB/Swiss-Prot
      A8K5E2, P51688
      UniProtKB/TrEMBL
      Q53GP1
      Related
      ENSP00000314606.6, ENST00000326317.11
      Conserved Domains (1) summary
      cd16027
      Location:24472
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)
    2. NM_001352921.3NP_001339850.1  N-sulphoglucosamine sulphohydrolase isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC087741, AC123764, BP198470
      Conserved Domains (1) summary
      cd16027
      Location:24316
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)
    3. NM_001352922.2NP_001339851.1  N-sulphoglucosamine sulphohydrolase isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC087741, AC123764, BP198470
      Conserved Domains (1) summary
      cd16027
      Location:24316
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)

    RNA

    1. NR_148201.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087741, AC123764, AK095969, BP198470
      Related
      ENST00000573150.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      80200673..80220333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525126.2XP_011523428.1  N-sulphoglucosamine sulphohydrolase isoform X1

      Conserved Domains (2) summary
      COG3119
      Location:20316
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16027
      Location:24316
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)

    RNA

    1. XR_007065412.1 RNA Sequence

    2. XR_007065413.1 RNA Sequence

    3. XR_001752590.2 RNA Sequence

    4. XR_007065411.1 RNA Sequence

    5. XR_007065409.1 RNA Sequence

    6. XR_007065410.1 RNA Sequence

    7. XR_007065424.1 RNA Sequence

    8. XR_007065423.1 RNA Sequence

    9. XR_007065403.1 RNA Sequence

    10. XR_007065416.1 RNA Sequence

    11. XR_007065407.1 RNA Sequence

    12. XR_007065421.1 RNA Sequence

    13. XR_007065404.1 RNA Sequence

    14. XR_007065406.1 RNA Sequence

    15. XR_007065408.1 RNA Sequence

    16. XR_007065419.1 RNA Sequence

    17. XR_007065418.1 RNA Sequence

    18. XR_007065405.1 RNA Sequence

    19. XR_007065420.1 RNA Sequence

    20. XR_007065417.1 RNA Sequence

    21. XR_007065414.1 RNA Sequence

    22. XR_007065422.1 RNA Sequence

    23. XR_007065415.1 RNA Sequence

    24. XR_007065401.1 RNA Sequence

    25. XR_001752585.1 RNA Sequence

    26. XR_934532.3 RNA Sequence

    27. XR_007065402.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791802.1 Reference GRCh38.p14 PATCHES

      Range
      233982..234878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      81101075..81120754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316919.1XP_054172894.1  N-sulphoglucosamine sulphohydrolase isoform X1

    RNA

    1. XR_008484904.1 RNA Sequence

    2. XR_008484905.1 RNA Sequence

    3. XR_008484903.1 RNA Sequence

    4. XR_008484902.1 RNA Sequence

    5. XR_008484900.1 RNA Sequence

    6. XR_008484901.1 RNA Sequence

    7. XR_008484916.1 RNA Sequence

    8. XR_008484915.1 RNA Sequence

    9. XR_008484894.1 RNA Sequence

    10. XR_008484908.1 RNA Sequence

    11. XR_008484898.1 RNA Sequence

    12. XR_008484913.1 RNA Sequence

    13. XR_008484895.1 RNA Sequence

    14. XR_008484897.1 RNA Sequence

    15. XR_008484899.1 RNA Sequence

    16. XR_008484911.1 RNA Sequence

    17. XR_008484910.1 RNA Sequence

    18. XR_008484896.1 RNA Sequence

    19. XR_008484912.1 RNA Sequence

    20. XR_008484909.1 RNA Sequence

    21. XR_008484906.1 RNA Sequence

    22. XR_008484914.1 RNA Sequence

    23. XR_008484907.1 RNA Sequence

    24. XR_008484891.1 RNA Sequence

    25. XR_008484890.1 RNA Sequence

    26. XR_008484892.1 RNA Sequence

    27. XR_008484893.1 RNA Sequence