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

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

    Summary

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    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
    mouse all
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    Genomic context

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    See SGSH in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (80200673..80220333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (81101075..81120754, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). van de Kamp JJ, et al. Clin Genet, 1981 Aug. PMID 6796310
    2. Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. Bekri S, et al. J Inherit Metab Dis, 2005. PMID 15902564
    3. Analysis of Sanfilippo A gene mutations in a large pedigree. Di Natale P, et al. Clin Genet, 2003 Apr. PMID 12702166
    4. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Meyer A, et al. Hum Mutat, 2008 May. PMID 18407553
    5. Enzyme replacement reduces neuropathology in MPS IIIA dogs. Crawley AC, et al. Neurobiol Dis, 2011 Aug. PMID 21550404

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sulfamidase activity in 238 random newborns was well elevated compared to the range of activities measured in dried blood spots from 8 patients previously confirmed to have mucopolysaccharidosis III-A.
      Title: Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.
    2. CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests.
      Title: A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
    3. We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction.
      Title: Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
    4. results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular pathology
      Title: Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.
    5. The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA.
      Title: Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
    6. Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model.
      Title: Enzyme replacement reduces neuropathology in MPS IIIA dogs.
    7. Processing and secretion of p.Ser298Pro sulfamidase suggests that small amounts of the newly synthesized enzyme are transported to lysosomes
      Title: Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    9. By assessing the degree of developmental regression over time a group of 7 pts with a slowly progressive course of MPSIIIA were identified. In these 7 pts and in 3 other mildly affected pts missense mutation c.892T>C (p.Ser298Pro) was found on 1 allele
      Title: The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
    10. analysis of a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P) in heparan N-sulphatase in a mucopolysaccharidosis IIIA patient [case report]
      Title: Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mucopolysaccharidosis, MPS-III-A
    MedGen: C0086647 OMIM: 252900 GeneReviews: Mucopolysaccharidosis Type III
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_000199.5 → NP_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:24 → 472
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)

    2. NM_001352921.3 → NP_001339850.1  N-sulphoglucosamine sulphohydrolase isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC087741, AC123764, BP198470
      Conserved Domains (1) summary
      cd16027
      Location:24 → 316
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)

    3. NM_001352922.2 → NP_001339851.1  N-sulphoglucosamine sulphohydrolase isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC087741, AC123764, BP198470
      Conserved Domains (1) summary
      cd16027
      Location:24 → 316
      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_2024_08

    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_011525126.2 → XP_011523428.1  N-sulphoglucosamine sulphohydrolase isoform X1

      Conserved Domains (2) summary
      COG3119
      Location:20 → 316
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16027
      Location:24 → 316
      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_054316919.1 → XP_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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51688.1 GenPept UniProtKB/Swiss-Prot:P51688

    Gene LinkOut

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

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