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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
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Genomic context

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)

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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_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