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Aliases for SGSH Gene

Aliases for SGSH Gene

  • N-Sulfoglucosamine Sulfohydrolase 2 3
  • Mucopolysaccharidosis Type IIIA 2 3
  • Sulfoglucosamine Sulfamidase 3 4
  • Sulphamidase 3 4
  • MPS3A 3 6
  • SFMD 3 6
  • HSS 3 4
  • N-Sulphoglucosamine Sulphohydrolase 3
  • Heparan Sulfate Sulfatase 3
  • Sulfamidase 2
  • EC 3.10.1.1 4

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 iii. Among its related pathways are Disease and Lysosome. GO annotations related to this gene include sulfuric ester hydrolase activity and N-sulfoglucosamine sulfohydrolase activity.

Gene Wiki entry for SGSH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGSH Gene

Genomics for SGSH Gene

Regulatory Elements for SGSH Gene

Transcription factor binding sites by QIAGEN in the SGSH gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SGSH Gene

Start:
80,206,716 bp from pter
End:
80,220,923 bp from pter
Size:
14,208 bases
Orientation:
Minus strand

Genomic View for SGSH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P51688-SPHM_HUMAN
    Recommended name:
    N-sulphoglucosamine sulphohydrolase
    Protein Accession:
    P51688
    Secondary Accessions:
    • A8K5E2

    Protein attributes for SGSH Gene

    Size:
    502 amino acids
    Molecular mass:
    56695 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SGSH Gene

neXtProt entry for SGSH Gene

Proteomics data for SGSH Gene at MOPED

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 Lys103, Lys303, and Lys425
  • Glycosylation at Asn41, Asn142, Asn151, Asn264, and Asn413
  • Modification sites at PhosphoSitePlus

Other Protein References for SGSH Gene

No data available for DME Specific Peptides for SGSH Gene

Domains for SGSH Gene

Protein Domains for SGSH Gene

Suggested Antigen Peptide Sequences for SGSH Gene

Graphical View of Domain Structure for InterPro Entry

P51688

UniProtKB/Swiss-Prot:

SPHM_HUMAN :
  • P51688
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with SGSH: view

No data available for Gene Families for SGSH Gene

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

Enzyme Numbers (IUBMB) for SGSH Gene

Gene Ontology (GO) - Molecular Function for SGSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 7493035
GO:0005515 protein binding --
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016250 N-sulfoglucosamine sulfohydrolase 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

Animal Model Products

miRNA for SGSH Gene

miRTarBase miRNAs that target SGSH

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGSH

In Situ Assay Products

Flow Cytometry Products

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

Localization for SGSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGSH Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGSH Gene COMPARTMENTS Subcellular localization image for SGSH gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SGSH Gene

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

Pathways for SGSH Gene

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

Pathways by source for SGSH Gene

Interacting Proteins for SGSH Gene

Gene Ontology (GO) - Biological Process for SGSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0006029 proteoglycan metabolic process TAS 7493035
GO:0008152 metabolic process --
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with SGSH: view

Compounds for SGSH Gene

(2) HMDB Compounds for SGSH Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
N-Sulfo-D-glucosamine
  • N-Sulfo-D-glucosamine
909257-48-3

(2) Novoseek inferred chemical compound relationships for SGSH Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 84.2 11
glycosaminoglycan 41.2 1
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGSH

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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: - - - - -
SP6:
SP7: -
SP8:

Relevant External Links for SGSH Gene

GeneLoc Exon Structure for
SGSH
ECgene alternative splicing isoforms for
SGSH

Expression for SGSH Gene

mRNA expression in normal human tissues for SGSH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SGSH Gene

SOURCE GeneReport for Unigene cluster for SGSH Gene Hs.31074

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SGSH 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGSH 35
  • 87.57 (n)
  • 88.51 (a)
SGSH 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGSH 35
  • 88.75 (n)
  • 91.1 (a)
SGSH 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgsh 35
  • 84.59 (n)
  • 88.65 (a)
Sgsh 16
Sgsh 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGSH 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSH 35
  • 79.63 (n)
  • 81.87 (a)
SGSH 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGSH 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24951 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsh 35
  • 68.51 (n)
  • 74.18 (a)
zebrafish
(Danio rerio)
Actinopterygii sgsh 35
  • 67.48 (n)
  • 71.81 (a)
sgsh 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004205 35
  • 58.63 (n)
  • 59.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14291 35
  • 57.64 (n)
  • 56.04 (a)
CG14291 36
  • 51 (a)
OneToOne
CG14291 37
  • 54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.30 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToOne
Species with no ortholog for SGSH:
  • 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

ENSEMBL:
Gene Tree for SGSH (if available)
TreeFam:
Gene Tree for SGSH (if available)

Paralogs for SGSH Gene

Selected 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 MAF
rs2071148 -- 80,210,137(-) GGCAG(C/T)GCCCC utr-variant-3-prime, intron-variant, nc-transcript-variant
rs2269374 -- 80,211,843(-) CTCGC(C/T)TGGAT intron-variant
rs2269375 -- 80,211,757(-) ATATC(C/T)AAATT intron-variant
rs2269376 -- 80,211,728(-) GATTC(A/C)GTAGA intron-variant
rs4072867 -- 80,213,050(+) tgggc(A/G)tggtg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv469591 CNV Loss 16826518
nsv833562 CNV Loss 17160897
nsv908974 CNV Loss 21882294
dgv3297n71 CNV Loss 21882294
dgv3298n71 CNV Loss 21882294
nsv457968 CNV Loss 19166990
nsv908982 CNV Loss 21882294

Relevant External Links for SGSH Gene

HapMap Linkage Disequilibrium report
SGSH
Human Gene Mutation Database (HGMD)
SGSH

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

Disorders for SGSH Gene

(1) OMIM Diseases for SGSH Gene (605270)

UniProtKB/Swiss-Prot

SPHM_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for SGSH Gene

(4) Novoseek inferred disease relationships for SGSH Gene

Disease -log(P) Hits PubMed IDs
mps iiia 98.9 19
sanfilippos syndrome 92.6 4
mucopolysaccharidosis 81.3 1
lysosomal storage diseases 68 1

Relevant External Links for SGSH

Genetic Association Database (GAD)
SGSH
Human Genome Epidemiology (HuGE) Navigator
SGSH
genes like me logo Genes that share disorders with SGSH: view

Publications for SGSH Gene

  1. 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 23
  2. 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 23
  3. 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 23
  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). (PMID: 18407553) Meyer A. … Muschol N. (Hum. Mutat. 2008) 3 4 23
  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

Products for SGSH Gene

Sources for SGSH Gene

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