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SGSH (N-sulfoglucosamine sulfohydrolase)

Identity

Alias_symbol (synonym)HSS
MPS3A
SFMD
Other alias
HGNC (Hugo) SGSH
LocusID (NCBI) 6448
Atlas_Id 73189
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80209280 and ends at 80220400 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RGS7 (1q43) / SGSH (17q25.3)SGSH (17q25.3) / EHBP1 (2p15)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SGSH   10818
Cards
Entrez_Gene (NCBI)SGSH  6448  N-sulfoglucosamine sulfohydrolase
AliasesHSS; MPS3A; SFMD
GeneCards (Weizmann)SGSH
Ensembl hg19 (Hinxton)ENSG00000181523 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181523 [Gene_View]  chr17:80209280-80220400 [Contig_View]  SGSH [Vega]
ICGC DataPortalENSG00000181523
TCGA cBioPortalSGSH
AceView (NCBI)SGSH
Genatlas (Paris)SGSH
WikiGenes6448
SOURCE (Princeton)SGSH
Genetics Home Reference (NIH)SGSH
Genomic and cartography
GoldenPath hg38 (UCSC)SGSH  -     chr17:80209280-80220400 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SGSH  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblSGSH - 17q25.3 [CytoView hg19]  SGSH - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBISGSH [Mapview hg19]  SGSH [Mapview hg38]
OMIM252900   605270   
Gene and transcription
Genbank (Entrez)AB209900 AK095969 AK222890 AK291257 AK304706
RefSeq transcript (Entrez)NM_000199
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SGSH
Cluster EST : UnigeneHs.31074 [ NCBI ]
CGAP (NCI)Hs.31074
Alternative Splicing GalleryENSG00000181523
Gene ExpressionSGSH [ NCBI-GEO ]   SGSH [ EBI - ARRAY_EXPRESS ]   SGSH [ SEEK ]   SGSH [ MEM ]
Gene Expression Viewer (FireBrowse)SGSH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6448
GTEX Portal (Tissue expression)SGSH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51688   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51688  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51688
Splice isoforms : SwissVarP51688
PhosPhoSitePlusP51688
Domaine pattern : Prosite (Expaxy)SULFATASE_1 (PS00523)    SULFATASE_2 (PS00149)   
Domains : Interpro (EBI)Alkaline_Pase-like_a/b/a    Alkaline_phosphatase_core    DUF4976    Sulfatase_CS    Sulfatase_N   
Domain families : Pfam (Sanger)DUF4976 (PF16347)    Sulfatase (PF00884)   
Domain families : Pfam (NCBI)pfam16347    pfam00884   
Conserved Domain (NCBI)SGSH
DMDM Disease mutations6448
Blocks (Seattle)SGSH
PDB (SRS)4MHX    4MIV   
PDB (PDBSum)4MHX    4MIV   
PDB (IMB)4MHX    4MIV   
PDB (RSDB)4MHX    4MIV   
Structural Biology KnowledgeBase4MHX    4MIV   
SCOP (Structural Classification of Proteins)4MHX    4MIV   
CATH (Classification of proteins structures)4MHX    4MIV   
SuperfamilyP51688
Human Protein AtlasENSG00000181523
Peptide AtlasP51688
HPRD05590
IPIIPI00019988   IPI00922859   IPI01014892   IPI00556292   
Protein Interaction databases
DIP (DOE-UCLA)P51688
IntAct (EBI)P51688
FunCoupENSG00000181523
BioGRIDSGSH
STRING (EMBL)SGSH
ZODIACSGSH
Ontologies - Pathways
QuickGOP51688
Ontology : AmiGOlysosome  glycosaminoglycan catabolic process  glycosaminoglycan catabolic process  sulfuric ester hydrolase activity  N-sulfoglucosamine sulfohydrolase activity  N-sulfoglucosamine sulfohydrolase activity  heparan sulfate proteoglycan catabolic process  lysosomal lumen  metal ion binding  extracellular exosome  
Ontology : EGO-EBIlysosome  glycosaminoglycan catabolic process  glycosaminoglycan catabolic process  sulfuric ester hydrolase activity  N-sulfoglucosamine sulfohydrolase activity  N-sulfoglucosamine sulfohydrolase activity  heparan sulfate proteoglycan catabolic process  lysosomal lumen  metal ion binding  extracellular exosome  
Pathways : KEGGGlycosaminoglycan degradation    Lysosome   
NDEx NetworkSGSH
Atlas of Cancer Signalling NetworkSGSH
Wikipedia pathwaysSGSH
Orthology - Evolution
OrthoDB6448
GeneTree (enSembl)ENSG00000181523
Phylogenetic Trees/Animal Genes : TreeFamSGSH
HOVERGENP51688
HOGENOMP51688
Homologs : HomoloGeneSGSH
Homology/Alignments : Family Browser (UCSC)SGSH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGSH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGSH
dbVarSGSH
ClinVarSGSH
1000_GenomesSGSH 
Exome Variant ServerSGSH
ExAC (Exome Aggregation Consortium)SGSH (select the gene name)
Genetic variants : HAPMAP6448
Genomic Variants (DGV)SGSH [DGVbeta]
DECIPHERSGSH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSGSH 
Mutations
ICGC Data PortalSGSH 
TCGA Data PortalSGSH 
Broad Tumor PortalSGSH
OASIS PortalSGSH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGSH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGSH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SGSH
DgiDB (Drug Gene Interaction Database)SGSH
DoCM (Curated mutations)SGSH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGSH (select a term)
intoGenSGSH
Cancer3DSGSH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252900    605270   
Orphanet11295   
MedgenSGSH
Genetic Testing Registry SGSH
NextProtP51688 [Medical]
TSGene6448
GENETestsSGSH
Target ValidationSGSH
Huge Navigator SGSH [HugePedia]
snp3D : Map Gene to Disease6448
BioCentury BCIQSGSH
ClinGenSGSH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6448
Chemical/Pharm GKB GenePA35726
Clinical trialSGSH
Miscellaneous
canSAR (ICR)SGSH (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGSH
EVEXSGSH
GoPubMedSGSH
iHOPSGSH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:37:42 CEST 2017

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