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

Gene ID: 6448, updated on 3-May-2020

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
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

Genomic context

See SGSH in Genome Data Viewer
Location:
17q25.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (80200668..80220333, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78180515..78194199, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene glucosidase alpha, acid Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene caspase recruitment domain family member 14 Neighboring gene solute carrier family 26 member 11 Neighboring gene SLC26A11-RNF213 intergenic CAGE-defined mid-level expression enhancer Neighboring gene CRISPRi-validated cis-regulatory element chr17.5742

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetylglucosamine-6-sulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-sulfoglucosamine sulfohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-sulfoglucosamine sulfohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
N-sulfoglucosamine sulfohydrolase activity TAS
Traceable Author Statement
more info
 
glycosaminoglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sulfuric ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glycosaminoglycan catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycosaminoglycan catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparan sulfate proteoglycan catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
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_005257640.1
XP_011523428.1
XP_016880441.1

NCBI Reference Sequences (RefSeq)

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_008229.1 RefSeqGene

    Range
    5068..16125
    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
    P51688
    Related
    ENSP00000314606.6, ENST00000326317.11
    Conserved Domains (1) summary
    cd16027
    Location:24472
    SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)
  2. NM_001352921.2NP_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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    80200668..80220333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257583.4XP_005257640.1  N-sulphoglucosamine sulphohydrolase isoform X1

    Conserved Domains (2) summary
    COG3119
    Location:20325
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16027
    Location:24325
    SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)
  2. XM_017024952.1XP_016880441.1  N-sulphoglucosamine sulphohydrolase isoform X3

  3. XM_011525126.1XP_011523428.1  N-sulphoglucosamine sulphohydrolase isoform X2

    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_001752587.1 RNA Sequence

  2. XR_001752592.1 RNA Sequence

  3. XR_001752588.1 RNA Sequence

  4. XR_001752589.1 RNA Sequence

  5. XR_001752590.1 RNA Sequence

  6. XR_001752586.1 RNA Sequence

  7. XR_001752591.1 RNA Sequence

  8. XR_002958057.1 RNA Sequence

  9. XR_001752585.1 RNA Sequence

  10. XR_934532.2 RNA Sequence

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