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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 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]

GeneCards Summary for SGSH Gene

SGSH (N-Sulfoglucosamine Sulfohydrolase) is a Protein Coding gene. Diseases associated with SGSH include Mucopolysaccharidosis, Type Iiia and Mucopolysaccharidosis Iii. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SGSH Gene

Promoters and enhancers for SGSH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I080218 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.4 382 4.5 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 POLR2B SLC26A11 SGSH ENSG00000262580 CARD14 CBX8 GC17P080181
GH17I081033 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -818.8 -818846 13.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A SLC30A9 BAIAP2 EIF4A3 HGS ACTG1 TEPSIN ARHGDIA ALYREF SGSH AATK CHMP6
GH17I079984 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +230.9 230866 11.1 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 EIF4A3 CCDC40 ENGASE CBX2 TBC1D16 LOC100294362 ENDOV SGSH CANT1 ENSG00000262580
GH17I080544 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 -324.4 -324440 2.3 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B RPTOR ENSG00000262877 EIF4A3 ACTG1 TEPSIN LOC100130370 SGSH NPTX1 RPL32P31 LOC105371922
GH17I081017 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10 -797.7 -797740 2.9 PKNOX1 ATF1 ARID4B ZNF48 ZNF121 POLR2B ZNF766 GATA2 ATF7 RXRA ENSG00000262873 EIF4A3 TEPSIN FAAP100 HGS CHMP6 ACTG1 CEP131 ARL16 TSPAN10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SGSH on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SGSH Gene

Genomic Locations for SGSH Gene
chr17:80,206,716-80,220,923
(GRCh38/hg38)
Size:
14,208 bases
Orientation:
Minus strand
chr17:78,180,515-78,194,722
(GRCh37/hg19)

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 posLast=103103, isoforms=303, and posLast=425425
  • Glycosylation at isoforms=41, isoforms=142, isoforms=151, isoforms=264, and posLast=413413

No data available for DME Specific Peptides for SGSH Gene

Domains & Families for SGSH Gene

Gene Families for SGSH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

miRNA for SGSH Gene

miRTarBase miRNAs that target SGSH

Clone Products

No data available for Phenotypes From GWAS Catalog , 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 IEA,IDA 15146460
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with SGSH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SGSH Gene

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 IDA,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
calcium Approved Nutra 0
Glucosamine Approved, Investigational Nutra 211

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

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:

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

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 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGSH 33 34
  • 88.75 (n)
cow
(Bos Taurus)
Mammalia SGSH 33 34
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia Sgsh 33 16 34
  • 84.59 (n)
oppossum
(Monodelphis domestica)
Mammalia SGSH 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGSH 33 34
  • 79.63 (n)
lizard
(Anolis carolinensis)
Reptilia SGSH 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgsh 33
  • 68.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24951 33
zebrafish
(Danio rerio)
Actinopterygii sgsh 33 34
  • 67.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004205 33
  • 58.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14291 35 33 34
  • 57.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.30 33
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 Variation AA Info Type
rs1023240782 uncertain-significance, Sanfilippo syndrome 80,209,953(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1042267453 uncertain-significance, Sanfilippo syndrome 80,210,083(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1046551417 3A (MPS3A) [MIM:252900] 80,212,203(-) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1046832 benign, Sanfilippo syndrome 80,209,597(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs104894635 uncertain-significance, pathogenic, not specified, Mucopolysaccharidosis, MPS-III-A, not provided, Sanfilippo syndrome, Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] 80,213,815(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis, type iiia
  • mps3a
mucopolysaccharidosis iii
  • heparan sulfate sulfatase deficiency
lysosomal storage disease
  • disorder of lysosomal enzyme
mucopolysaccharidosis-plus syndrome
  • mpsps
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

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:28101780, 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.

Additional Disease Information for SGSH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (Human mutation 2008) 3 4 22 58
  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 (Journal of inherited metabolic disease 2005) 3 4 22 58
  3. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. (PMID: 15146460) Muschol N … Braulke T (Human mutation 2004) 3 4 22 58
  4. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. (PMID: 11793481) Emre S … Hopwood JJ (Human mutation 2002) 3 4 22 58
  5. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. (PMID: 7493035) Scott HS … Hopwood JJ (Nature genetics 1995) 2 3 4 58

Products for SGSH Gene

Sources for SGSH Gene

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