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Aliases for SGSH Gene

Aliases for SGSH Gene

  • N-Sulfoglucosamine Sulfohydrolase 2 3 5
  • Mucopolysaccharidosis Type IIIA 2 3
  • Sulfoglucosamine Sulfamidase 3 4
  • Sulphamidase 3 4
  • HSS 3 4
  • N-Sulphoglucosamine Sulphohydrolase 3
  • Heparan Sulfate Sulfatase 3
  • Sulfamidase 2
  • EC 4
  • MPS3A 3
  • SFMD 3

External Ids for SGSH Gene

Previous GeneCards Identifiers for SGSH Gene

  • GC17U990093
  • GC17M081486
  • GC17M078745
  • GC17M078883
  • GC17M075797
  • GC17M078183
  • GC17M073623

Summaries for SGSH Gene

Entrez Gene Summary for SGSH Gene

  • This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, 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, Jul 2008]

GeneCards Summary for SGSH Gene

SGSH (N-Sulfoglucosamine Sulfohydrolase) is a Protein Coding gene. Diseases associated with SGSH include Mucopolysaccharidisis Type Iiia and Mucopolysaccharidosis. Among its related pathways are Metabolism and Lysosome. GO annotations related to this gene include sulfuric ester hydrolase activity and N-sulfoglucosamine sulfohydrolase activity.

UniProtKB/Swiss-Prot for SGSH Gene

  • Catalyzes a step in lysosomal heparan sulfate degradation.

Gene Wiki entry for SGSH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGSH Gene

Genomics for SGSH Gene

Regulatory Elements for SGSH Gene

Enhancers for SGSH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F080212 1.1 Ensembl 26.7 +7.8 7751 1.3 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SGSH CARD14 EIF4A3 GC17M080212 SLC26A11
GH17F079984 1.8 FANTOM5 Ensembl ENCODE 10.9 +229.3 229260 14.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 EIF4A3 LOC100294362 CCDC40 LOC105371918 CBX2 TBC1D16 SGSH LOC105371920 ENGASE RNF213
GH17F081033 1.8 FANTOM5 Ensembl ENCODE 10 -818.8 -818846 13.5 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 ENSG00000262049 ARL16 HGS EIF4A3 CHMP6 ACTG1 TEPSIN LOC100294362 ARHGDIA ALYREF
GH17F081017 1.4 FANTOM5 ENCODE 10 -797.7 -797741 2.9 ATF1 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 ZNF121 GLIS2 GATA2 GTF2B ENSG00000262049 ARL16 HGS LOC100294362 EIF4A3 ACTG1 CEP131 TEPSIN TSPAN10 ARHGDIA
GH17F079799 1.3 Ensembl ENCODE 9.9 +419.9 419923 2.2 ARID4B FEZF1 DMAP1 ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 KLF7 ZNF263 EIF4A3 CBX8 SGSH LOC105371918
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGSH on UCSC Golden Path with GeneCards custom track

Promoters for SGSH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001354864 423 2201 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A ZNF48 ZNF2 ZNF121 GLIS2

Genomic Location for SGSH Gene

80,206,716 bp from pter
80,220,923 bp from pter
14,208 bases
Minus strand

Genomic View for SGSH Gene

Genes around SGSH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGSH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGSH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGSH Gene

Proteins for SGSH Gene

  • Protein details for SGSH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    N-sulphoglucosamine sulphohydrolase
    Protein Accession:
    Secondary Accessions:
    • A8K5E2

    Protein attributes for SGSH Gene

    502 amino acids
    Molecular mass:
    56695 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SGSH Gene

neXtProt entry for SGSH Gene

Post-translational modifications for SGSH Gene

  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
  • Ubiquitination at Lys 103, Lys 303, and Lys 425
  • Glycosylation at Asn 41, Asn 142, Asn 151, Asn 264, and Asn 413
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SGSH (Sulfamidase/SGSH)
  • Abcam antibodies for SGSH

No data available for DME Specific Peptides for SGSH Gene

Domains & Families for SGSH Gene

Gene Families for SGSH Gene

Suggested Antigen Peptide Sequences for SGSH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sulfatase family.
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with SGSH: view

Function for SGSH Gene

Molecular function for SGSH Gene

GENATLAS Biochemistry:
sulfamidase,lysosomal,acting on heparan sulfate,catalyzing the third step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity:
N-sulfo-D-glucosamine + H(2)O = D-glucosamine + sulfate.
UniProtKB/Swiss-Prot Function:
Catalyzes a step in lysosomal heparan sulfate degradation.

Enzyme Numbers (IUBMB) for SGSH Gene

Gene Ontology (GO) - Molecular Function for SGSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016250 N-sulfoglucosamine sulfohydrolase activity TAS --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SGSH: view
genes like me logo Genes that share phenotypes with SGSH: view

Human Phenotype Ontology for SGSH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SGSH Gene

miRTarBase miRNAs that target SGSH

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SGSH Gene

Localization for SGSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGSH Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGSH gene
Compartment Confidence
extracellular 5
lysosome 5
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SGSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 15146460
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SGSH: view

Pathways & Interactions for SGSH Gene

genes like me logo Genes that share pathways with SGSH: view

Gene Ontology (GO) - Biological Process for SGSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0030200 heparan sulfate proteoglycan catabolic process IMP 15146460
genes like me logo Genes that share ontologies with SGSH: view

No data available for SIGNOR curated interactions for SGSH Gene

Drugs & Compounds for SGSH Gene

(3) Drugs for SGSH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Glucosamine Approved Nutra 182
calcium Nutra 0

(3) Additional Compounds for SGSH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • N-Sulfo-D-glucosamine
genes like me logo Genes that share compounds with SGSH: view

Transcripts for SGSH Gene

Unigene Clusters for SGSH Gene

N-sulfoglucosamine sulfohydrolase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SGSH Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - -
SP5: - - - - -
SP7: -

Relevant External Links for SGSH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SGSH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SGSH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGSH Gene

This gene is overexpressed in Adrenal (18.7), CD8 Tcells (7.1), and NK cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SGSH Gene

Protein tissue co-expression partners for SGSH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGSH Gene:


SOURCE GeneReport for Unigene cluster for SGSH Gene:

genes like me logo Genes that share expression patterns with SGSH: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SGSH Gene

Orthologs for SGSH Gene

This gene was present in the common ancestor of animals.

Orthologs for SGSH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SGSH 35
  • 95 (a)
(Canis familiaris)
Mammalia SGSH 34 35
  • 88.75 (n)
(Bos Taurus)
Mammalia SGSH 34 35
  • 87.57 (n)
(Mus musculus)
Mammalia Sgsh 34 16 35
  • 84.59 (n)
(Monodelphis domestica)
Mammalia SGSH 35
  • 82 (a)
(Gallus gallus)
Aves SGSH 34 35
  • 79.63 (n)
(Anolis carolinensis)
Reptilia SGSH 35
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsh 34
  • 68.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24951 34
(Danio rerio)
Actinopterygii sgsh 34 35
  • 67.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004205 34
  • 58.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14291 34 35 36
  • 57.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.30 34
Species where no ortholog for SGSH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SGSH Gene

Gene Tree for SGSH (if available)
Gene Tree for SGSH (if available)

Paralogs for SGSH Gene

(1) SIMAP similar genes for SGSH Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with SGSH: view

No data available for Paralogs for SGSH Gene

Variants for SGSH Gene

Sequence variations from dbSNP and Humsavar for SGSH Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894635 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900], Pathogenic 80,213,815(-) CGGCC(A/G)CATGG nc-transcript-variant, reference, missense
rs104894636 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900], Pathogenic 80,217,061(-) CCAGC(C/T)GCGCC nc-transcript-variant, reference, missense
rs104894637 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900], Pathogenic 80,217,084(-) CACCT(C/G/T)GGTCA nc-transcript-variant, reference, missense
rs104894638 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900], Pathogenic 80,214,672(-) GGGGC(A/G)GAACA nc-transcript-variant, reference, missense
rs104894639 Mucopolysaccharidosis 3A (MPS3A) [MIM:252900], Pathogenic 80,210,622(-) CCCAC(A/G)AGACC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SGSH Gene

Variant ID Type Subtype PubMed ID
nsv833562 CNV loss 17160897
nsv576131 CNV loss 21841781
nsv576130 CNV loss 21841781
nsv469591 CNV loss 16826518
nsv457968 CNV loss 19166990
nsv1066606 CNV gain 25217958

Variation tolerance for SGSH Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.61; 78.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGSH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGSH Gene

Disorders for SGSH Gene

MalaCards: The human disease database

(7) MalaCards diseases for SGSH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidisis type iiia
  • mucopolysaccharidosis, type iiia
  • mps
mucopolysaccharidosis iii
  • mucopolysaccharidosis type iiib
lysosomal storage disease
  • disorder of lysosomal enzyme
kluver-bucy syndrome
  • klver-bucy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SGSH in MalaCards View complete list of genes associated with diseases


  • Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]: A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. {ECO:0000269 PubMed:11182930, ECO:0000269 PubMed:11793481, ECO:0000269 PubMed:12000360, ECO:0000269 PubMed:12702166, ECO:0000269 PubMed:15146460, ECO:0000269 PubMed:15637719, ECO:0000269 PubMed:15902564, ECO:0000269 PubMed:16311287, ECO:0000269 PubMed:17128482, ECO:0000269 PubMed:18407553, ECO:0000269 PubMed:21671382, ECO:0000269 PubMed:9158154, ECO:0000269 PubMed:9285796, ECO:0000269 PubMed:9401012, ECO:0000269 PubMed:9554748, ECO:0000269 PubMed:9744479}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SGSH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SGSH: view

No data available for Genatlas for SGSH Gene

Publications for SGSH Gene

  1. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). (PMID: 18407553) Meyer A. … Muschol N. (Hum. Mutat. 2008) 3 4 22 64
  2. Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (PMID: 15902564) Bekri S. … Froissart R. (J. Inherit. Metab. Dis. 2005) 3 4 22 64
  3. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. (PMID: 15146460) Muschol N. … Braulke T. (Hum. Mutat. 2004) 3 4 22 64
  4. Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B. (PMID: 11793481) Emre S. … Hopwood J.J. (Hum. Mutat. 2002) 3 4 22 64
  5. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. (PMID: 7493035) Scott H.S. … Hopwood J.J. (Nat. Genet. 1995) 2 3 4 64

Products for SGSH Gene

Sources for SGSH Gene

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