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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 3.10.1.1 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 Iii. Among its related pathways are Glycosaminoglycan degradation and Glycosaminoglycan metabolism. 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 CIViC summary , 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
GH17G080212 1.1 Ensembl 26.7 +7.8 7751 1.3 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 EIF4A3 SGSH CARD14 CHMP6 GC17M080212 SLC26A11
GH17G079984 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +230.9 230867 11.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 EIF4A3 LOC100294362 CBX2 CCDC40 TBC1D16 SGSH LOC105371920 ENGASE CBX4 CBX8
GH17G081033 2 FANTOM5 Ensembl ENCODE dbSUPER 10 -818.8 -818846 13.5 CREB3L1 MLX ZFP64 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MEF2D ENSG00000262049 EIF4A3 CHMP6 HGS ARL16 ACTG1 TEPSIN ARHGDIA ALYREF BAIAP2
GH17G081017 1.7 FANTOM5 ENCODE dbSUPER 10 -797.7 -797741 2.9 PKNOX1 ATF1 ARID4B SIN3A ZNF2 ZNF48 ZNF121 ZNF766 GLIS2 ELK1 EIF4A3 HGS ACTG1 TEPSIN ENSG00000262049 ARHGDIA ALYREF SGSH CHMP6 ENSG00000262873
GH17G079826 1.4 Ensembl ENCODE dbSUPER 10 +394.4 394429 0.6 ATF1 CREB3L1 GATA2 ELK1 ZMIZ1 GTF2B NCOA1 REST ZNF592 MBD2 EIF4A3 CBX8 SGSH LINC01977 CBX4
- 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
ENSR00000099180 523 2001 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 SP3 MXD4

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

Genomic Location for SGSH Gene

Chromosome:
17
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

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:
    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;
    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 isoforms=103, Lys303, and isoforms=425
  • Glycosylation at Asn41, isoforms=142, isoforms=151, isoforms=264, and Asn413
  • 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

P51688

UniProtKB/Swiss-Prot:

SPHM_HUMAN :
  • Belongs to the sulfatase family.
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

Clone 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

Lysosome.

Subcellular locations from

COMPARTMENTS
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 IDA,IEA 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 191
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
  • N-Sulfo-D-glucosamine
909257-48-3
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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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:

SGSH

SOURCE GeneReport for Unigene cluster for SGSH Gene:

Hs.31074

Evidence on tissue expression from TISSUES for SGSH Gene

  • Kidney(4.4)
  • Liver(4.3)
  • Pancreas(4.2)
  • Nervous system(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SGSH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia SGSH 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGSH 34 35
  • 88.75 (n)
cow
(Bos Taurus)
Mammalia SGSH 34 35
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia Sgsh 34 16 35
  • 84.59 (n)
oppossum
(Monodelphis domestica)
Mammalia SGSH 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSH 34 35
  • 79.63 (n)
lizard
(Anolis carolinensis)
Reptilia SGSH 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsh 34
  • 68.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24951 34
zebrafish
(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 36 34 35
  • 57.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SGSH (if available)
TreeFam:
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 Pathogenic, Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] 80,213,815(-) CGGCC(A/G/T)CATGG nc-transcript-variant, reference, missense
rs104894636 Pathogenic, Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] 80,217,061(-) CCAGC(C/T)GCGCC nc-transcript-variant, reference, missense
rs104894637 Pathogenic, Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] 80,217,084(-) CACCT(C/G/T)GGTCA nc-transcript-variant, reference, missense
rs104894638 Pathogenic, Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] 80,214,672(-) GGGGC(A/G)GAACA nc-transcript-variant, reference, missense
rs104894639 Pathogenic, Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] 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
nsv1066606 CNV gain 25217958
nsv457968 CNV loss 19166990
nsv469591 CNV loss 16826518
nsv576130 CNV loss 21841781
nsv576131 CNV loss 21841781
nsv833562 CNV loss 17160897

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)
SGSH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGSH

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

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.

Relevant External Links for SGSH

Genetic Association Database (GAD)
SGSH
Human Genome Epidemiology (HuGE) Navigator
SGSH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGSH
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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