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SGSH Gene

protein-coding   GIFtS: 66
GCID: GC17M078183

N-Sulfoglucosamine Sulfohydrolase

  See SGSH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Sulfoglucosamine Sulfohydrolase1 2     sulfamidase1
Mucopolysaccharidosis Type IIIA1 2     Heparan Sulfate Sulfatase2
Sulfoglucosamine Sulfamidase2 3     N-Sulphoglucosamine Sulphohydrolase2
HSS2 3     sulphamidase2
MPS3A2 5     EC 3.10.1.13
SFMD2 5     Sulphamidase3

External Ids:    HGNC: 108181   Entrez Gene: 64482   Ensembl: ENSG000001815237   OMIM: 6052705   UniProtKB: P516883   

Export aliases for SGSH gene to outside databases

Previous GC identifers: GC17U990093 GC17M081486 GC17M078745 GC17M078883 GC17M075797 GC17M073623


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 mucopolysaccharidosis, and mucopolysaccharidisis type iiia. GO annotations related to this gene include N-sulfoglucosamine sulfohydrolase activity and sulfuric ester hydrolase activity.

Gene Wiki entry for SGSH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SGSH gene promoter:
         AREB6   Lmo2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSGSH promoter sequence
   Search Chromatin IP Primers for SGSH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SGSH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

SGSH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SGSH gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M078183:  view genomic region     (about GC identifiers)

Start:
78,180,515 bp from pter      End:
78,194,722 bp from pter
Size:
14,208 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPHM_HUMAN, P51688 (See protein sequence)
Recommended Name: N-sulphoglucosamine sulphohydrolase precursor  
Size: 502 amino acids; 56695 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Secondary accessions: A8K5E2

Explore the universe of human proteins at neXtProt for SGSH: NX_P51688

Explore proteomics data for SGSH at MOPED

Post-translational modifications: 

  • 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 (By similarity)1
  • Ubiquitination2 at Lys103, Lys303, Lys425
  • Glycosylation2 at Asn41, Asn142, Asn151, Asn264, Asn413
  • Modification sites at PhosphoSitePlus

  • See SGSH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000190.1  
    ENSEMBL proteins: 
     ENSP00000461827   ENSP00000314606   ENSP00000459280   ENSP00000460720   ENSP00000458200  
     ENSP00000461160   ENSP00000459708   ENSP00000461128   ENSP00000459765   ENSP00000437778  
    Reactome Protein details: P51688

    SGSH Human Recombinant Protein Products:

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    Novus Biologicals SGSH Protein
    Novus Biologicals SGSH Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SGSH

     
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    antibodies-online proteins for SGSH (3 products) 

     
    antibodies-online peptides for SGSH

    SGSH Antibody Products:

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    antibodies-online antibodies for SGSH (35 products) 

    SGSH Assay Products:

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    Cloud-Clone Corp. ELISAs for SGSH
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    antibodies-online kits for SGSH (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR000917 Sulfatase
     IPR024607 Sulfatase_CS
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry P51688

    ProtoNet protein and cluster: P51688

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: SPHM_HUMAN, P51688
    Similarity: Belongs to the sulfatase family


    Find genes that share domains with SGSH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPHM_HUMAN, P51688
    Catalytic activity: N-sulfo-D-glucosamine + H(2)O = D-glucosamine + sulfate

         Genatlas biochemistry entry for SGSH:
    sulfamidase,lysosomal,acting on heparan sulfate,catalyzing the third step of degradation of glucosaminoglycans
    (mucopolysaccharides)

         Enzyme Number (IUBMB): EC 3.10.1.11

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS7493035
    GO:0005515protein binding ----
    GO:0008484sulfuric ester hydrolase activity IEA--
    GO:0016250N-sulfoglucosamine sulfohydrolase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with SGSH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SGSH:
     Increased gamma-H2AX phosphory 

         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sgsh):
     behavior/neurological  cardiovascular system  cellular  craniofacial  hematopoietic system 
     immune system  integument  liver/biliary system  mortality/aging  nervous system 
     renal/urinary system  skeleton  vision/eye 

    Find genes that share phenotypes with SGSH           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SGSH

    miRNA
    Products:
        
    miRTarBase miRNAs that target SGSH:
    hsa-mir-30e-3p (MIRT044118), hsa-mir-941 (MIRT036568), hsa-mir-30a-3p (MIRT049918)

    Block miRNA regulation of human, mouse, rat SGSH using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SGSH:
    hsa-miR-3202
    SwitchGear 3'UTR luciferase reporter plasmidSGSH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SGSH
    Predesigned siRNA for gene silencing in human, mouse, rat SGSH

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGSH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPHM_HUMAN, P51688: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043202lysosomal lumen TAS--

    Find genes that share ontologies with SGSH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SGSH About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG degradation0.39
    4Lysosome
    Lysosome
    5Glycosaminoglycan degradation
    Glycosaminoglycan degradation


    Find genes that share SuperPaths with SGSH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SGSH
        HS-GAG degradation


    3 Kegg Pathways  (Kegg details for SGSH):
        Glycosaminoglycan degradation
    Metabolic pathways
    Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SGSH
    Interactions:

        Search GeneGlobe Interaction Network for SGSH

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SGSH (ENSP000003146064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HGSNATENSP000003689654STRING: ENSP00000368965
    IDUAENSP000002479334STRING: ENSP00000247933
    SUMF1ENSP000002729024STRING: ENSP00000272902
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0006029proteoglycan metabolic process TAS7493035
    GO:0008152metabolic process ----
    GO:0030203glycosaminoglycan metabolic process TAS--

    Find genes that share ontologies with SGSH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SGSH (SPHM)

    2 HMDB Compounds for SGSH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    N-Sulfo-D-glucosamineN-Sulfo-D-glucosamine 909257-48-3--

    2 Novoseek inferred chemical compound relationships for SGSH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 84.2 15 10224661 (2), 20231109 (1), 12801641 (1), 11793481 (1) (see all 10)
    glycosaminoglycan 41.2 2 10224661 (1)



    Find genes that share compounds with SGSH           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SGSH gene: 
    NM_000199.3  

    Unigene Cluster for SGSH:

    N-sulfoglucosamine sulfohydrolase
    Hs.31074  [show with all ESTs]
    Unigene Representative Sequence: NM_000199
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000575484 ENST00000571156 ENST00000572257 ENST00000326317(uc002jxz.4 uc002jya.4)
    ENST00000575282(uc002jxy.2) ENST00000573150 ENST00000576856 ENST00000570923(uc010wue.1)
    ENST00000576941 ENST00000574505 ENST00000572208 ENST00000571051 ENST00000576707
    ENST00000570427 ENST00000571675 ENST00000575188 ENST00000571075 ENST00000534910

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SGSH:
    hsa-miR-3202
    SwitchGear 3'UTR luciferase reporter plasmidSGSH 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SGSH
      QuantiFast Probe-based Assays in human, mouse, rat SGSH

    Additional mRNA sequence: 

    AK095969.1 AK222890.1 AK291257.1 AK304706.1 AK309927.1 BC047318.1 U30894.1 

    9 DOTS entries:

    DT.97838326  DT.91876590  DT.100708779  DT.112320  DT.120944816  DT.120944862  DT.91748206  DT.100784097 
    DT.95277130 

    Selected AceView cDNA sequences (see all 135):

    BI823800 BX387226 CB961545 BU621458 AU099199 AA312469 CD607804 BQ227740 
    CB988539 BP364345 BU734616 AL543497 CR623882 BP365415 BQ669835 AI363945 
    CA454045 BQ675535 BM818396 BG829585 CD368281 BU553673 BM695105 BU685248 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SGSH (see all 8)    About this scheme

    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:                                                                                -                 -     -     -     -         


    ECgene alternative splicing isoforms for SGSH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SGSH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGATGCCCG
    SGSH Expression
    About this image


    SGSH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Eye (Sensory Organs)
             Retina
    SGSH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SGSH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31074
        Custom PCR Arrays for SGSH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGSH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SGSH gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sgsh1 , 5 N-sulfoglucosamine sulfohydrolase (sulfamidase)1, 5 84.59(n)1
    88.65(a)1
      11 (83.36 cM)5
    270291  NM_018822.31  NP_061292.21 
     1193434255 
    chicken
    (Gallus gallus)
    Aves SGSH1 N-sulfoglucosamine sulfohydrolase 79.63(n)
    81.87(a)
      422081  XM_420084.4  XP_420084.4 
    lizard
    (Anolis carolinensis)
    Reptilia SGSH6
    N-sulfoglucosamine sulfohydrolase
    75(a)
    1 ↔ 1
    2(100552938-100564219)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.249512 Xenopus laevis transcribed sequence with moderate similarity more 72.28(n)    BX842936.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sgsh1 N-sulfoglucosamine sulfohydrolase (sulfamidase) 67.48(n)
    71.81(a)
      563849  NM_001123268.1  NP_001116740.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142911 , 3 N-sulfoglucosamine sulfohydrolase3
    CG142911
    54(a)3
    57.64(n)1
    56.04(a)1
      91D43
    422661  NM_142503.41  NP_650760.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SGSH gene
    1 SIMAP similar gene for SGSH using alignment to 10 protein entries:     SPHM_HUMAN (see all proteins):
    IDS

    Find genes that share paralogs with SGSH           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SGSH (see all 468)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385042211,2,,4
    C,FMucopolysaccharidosis 3A (MPS3A)4 --79294827(+) CGGGGA/GTGACA 2 P S mis12Minor allele frequency- G:0.00NA EU 5855
    rs1444616101,2,,4
    C,FMucopolysaccharidosis 3A (MPS3A)4 --79294967(+) CCAGTC/GCAACT 2 A G mis11Minor allele frequency- G:0.00NA 4338
    rs1136418371,2,,4
    C,FMucopolysaccharidosis 3A (MPS3A)4 --79296547(+) GGTCGG/CCTCGG 2 /A /G mis12Minor allele frequency- C:0.00CSA NA 4016
    VAR_0546824
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0546822 P S mis40--------
    VAR_0074174
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0074172 E K mis40--------
    VAR_0546964
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0546962 R W mis40--------
    VAR_0546754
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0546752 S R mis40--------
    VAR_0074044
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0074042 R C mis40--------
    VAR_0546704
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0546702 D E mis40--------
    VAR_0073904
    Mucopolysaccharidosis 3A (MPS3A)4--see VAR_0073902 S W mis40--------

    HapMap Linkage Disequilibrium report for SGSH (78180515 - 78194722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SGSH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908974CNV Loss21882294
    nsv457968CNV Loss19166990
    nsv833562CNV Loss17160897
    nsv908982CNV Loss21882294
    dgv3298n71CNV Loss21882294
    dgv3297n71CNV Loss21882294
    nsv469591CNV Loss16826518

    Human Gene Mutation Database (HGMD): SGSH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SGSH
    DNA2.0 Custom Variant and Variant Library Synthesis for SGSH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605270   
    OMIM disorders: 252900  
    UniProtKB/Swiss-Prot: SPHM_HUMAN, P51688
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for SGSH:    
    About MalaCards
    mucopolysaccharidosis    mucopolysaccharidisis type iiia    beta-mannosidosis    mucopolysaccharidosis iii
    lysosomal storage disease

    2 diseases from the University of Copenhagen DISEASES database for SGSH:
    Mucopolysaccharidosis     beta-mannosidosis

    Find genes that share disorders with SGSH           About GenesLikeMe

    4 Novoseek inferred disease relationships for SGSH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mps iiia 98.9 43 9405287 (2), 17227588 (2), 18407553 (2), 11793481 (2) (see all 15)
    sanfilippos syndrome 92.6 4 10224661 (1), 15146460 (1), 15902564 (1), 10950929 (1)
    mucopolysaccharidosis 81.3 1 15902564 (1)
    lysosomal storage diseases 68 2 15146460 (1)

    Genetic Association Database (GAD): SGSH
    Human Genome Epidemiology (HuGE) Navigator: SGSH (1 document)

    Export disorders for SGSH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SGSH gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with SGSH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. (PubMed id 7493035)1, 2, 3 Scott H.S.... Hopwood J.J. (Nat. Genet. 1995)
    2. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). (PubMed id 18407553)1, 2, 9 Meyer A.... Muschol N. (Hum. Mutat. 2008)
    3. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. (PubMed id 15146460)1, 2, 9 Muschol N.... Braulke T. (Hum. Mutat. 2004)
    4. Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (PubMed id 15902564)1, 2, 9 Bekri S.... Froissart R. (J. Inherit. Metab. Dis. 2005)
    5. Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B. (PubMed id 11793481)1, 2, 9 Emre S....Hopwood J.J. (Hum. Mutat. 2002)
    6. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. (PubMed id 21671382)1, 2 Muschol N.... Braulke T. (Am. J. Med. Genet. A 2011)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Analysis of Sanfilippo A gene mutations in a large pedigree. (PubMed id 12702166)1, 2 Di Natale P.... Bartuli A. (Clin. Genet. 2003)
    10. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (Nat. Biotechnol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6448 HGNC: 10818 AceView: SGSH Ensembl:ENSG00000181523 euGenes: HUgn6448
    ECgene: SGSH Kegg: 6448 H-InvDB: SGSH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SGSH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IDS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SGSH gene:
    Search GeneIP for patents involving SGSH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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