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SGSH (N-sulfoglucosamine sulfohydrolase)

Identity

Alias (NCBI)HSS
MPS3A
SFMD
HGNC (Hugo) SGSH
HGNC Alias symbHSS
MPS3A
SFMD
HGNC Alias namesulfamidase
 mucopolysaccharidosis type IIIA
LocusID (NCBI) 6448
Atlas_Id 73189
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80209276 and ends at 80220333 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    N-sulfoglucosamine sulfohydrolase
AliasesHSS; MPS3A; SFMD
GeneCards (Weizmann)SGSH
Ensembl hg19 (Hinxton)ENSG00000181523 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181523 [Gene_View]  ENSG00000181523 [Sequence]  chr17:80209276-80220333 [Contig_View]  SGSH [Vega]
ICGC DataPortalENSG00000181523
TCGA cBioPortalSGSH
AceView (NCBI)SGSH
Genatlas (Paris)SGSH
SOURCE (Princeton)SGSH
Genetics Home Reference (NIH)SGSH
Genomic and cartography
GoldenPath hg38 (UCSC)SGSH  -     chr17:80209276-80220333 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SGSH  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathSGSH - 17q25.3 [CytoView hg19]  SGSH - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000181523
Genome Data Viewer NCBISGSH [Mapview hg19]  
OMIM252900   605270   
Gene and transcription
Genbank (Entrez)AB209900 AK095969 AK222890 AK291257 AK304706
RefSeq transcript (Entrez)NM_000199 NM_001352921 NM_001352922
Consensus coding sequences : CCDS (NCBI)SGSH
Gene ExpressionSGSH [ NCBI-GEO ]   SGSH [ EBI - ARRAY_EXPRESS ]   SGSH [ SEEK ]   SGSH [ MEM ]
Gene Expression Viewer (FireBrowse)SGSH [ Firebrowse - Broad ]
GenevisibleExpression of SGSH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6448
GTEX Portal (Tissue expression)SGSH
Human Protein AtlasENSG00000181523-SGSH [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP51688
Domaine pattern : Prosite (Expaxy)SULFATASE_1 (PS00523)    SULFATASE_2 (PS00149)   
Domains : Interpro (EBI)Alkaline_phosphatase_core_sf    DUF4976    Sulfatase_CS    Sulfatase_N   
Domain families : Pfam (Sanger)DUF4976 (PF16347)    Sulfatase (PF00884)   
Domain families : Pfam (NCBI)pfam16347    pfam00884   
Conserved Domain (NCBI)SGSH
PDB (RSDB)4MHX    4MIV   
PDB Europe4MHX    4MIV   
PDB (PDBSum)4MHX    4MIV   
PDB (IMB)4MHX    4MIV   
Structural Biology KnowledgeBase4MHX    4MIV   
SCOP (Structural Classification of Proteins)4MHX    4MIV   
CATH (Classification of proteins structures)4MHX    4MIV   
SuperfamilyP51688
AlphaFold pdb e-kbP51688   
Human Protein Atlas [tissue]ENSG00000181523-SGSH [tissue]
HPRD05590
Protein Interaction databases
DIP (DOE-UCLA)P51688
IntAct (EBI)P51688
BioGRIDSGSH
STRING (EMBL)SGSH
ZODIACSGSH
Ontologies - Pathways
QuickGOP51688
Ontology : AmiGOglycosaminoglycan binding  lysosome  glycosaminoglycan catabolic process  glycosaminoglycan catabolic process  glycosaminoglycan catabolic process  N-acetylglucosamine-6-sulfatase activity  N-sulfoglucosamine sulfohydrolase activity  N-sulfoglucosamine sulfohydrolase activity  heparan sulfate proteoglycan catabolic process  heparan sulfate proteoglycan catabolic process  lysosomal lumen  metal ion binding  extracellular exosome  
Ontology : EGO-EBIglycosaminoglycan binding  lysosome  glycosaminoglycan catabolic process  glycosaminoglycan catabolic process  glycosaminoglycan catabolic process  N-acetylglucosamine-6-sulfatase activity  N-sulfoglucosamine sulfohydrolase activity  N-sulfoglucosamine sulfohydrolase activity  heparan sulfate proteoglycan catabolic process  heparan sulfate proteoglycan catabolic process  lysosomal lumen  metal ion binding  extracellular exosome  
Pathways : KEGGGlycosaminoglycan degradation    Glycan structures - degradation   
NDEx NetworkSGSH
Atlas of Cancer Signalling NetworkSGSH
Wikipedia pathwaysSGSH
Orthology - Evolution
OrthoDB6448
GeneTree (enSembl)ENSG00000181523
Phylogenetic Trees/Animal Genes : TreeFamSGSH
Homologs : HomoloGeneSGSH
Homology/Alignments : Family Browser (UCSC)SGSH
Gene fusions - Rearrangements
Fusion : QuiverSGSH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGSH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGSH
dbVarSGSH
ClinVarSGSH
MonarchSGSH
1000_GenomesSGSH 
Exome Variant ServerSGSH
GNOMAD BrowserENSG00000181523
Varsome BrowserSGSH
ACMGSGSH variants
VarityP51688
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]  
Somatic Mutations in Cancer : COSMIC3DSGSH
Mutations and Diseases : HGMDSGSH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSGSH
DgiDB (Drug Gene Interaction Database)SGSH
DoCM (Curated mutations)SGSH
CIViC (Clinical Interpretations of Variants in Cancer)SGSH
Cancer3DSGSH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252900    605270   
Orphanet11295   
DisGeNETSGSH
MedgenSGSH
Genetic Testing Registry SGSH
NextProtP51688 [Medical]
GENETestsSGSH
Target ValidationSGSH
Huge Navigator SGSH [HugePedia]
ClinGenSGSH
Clinical trials, drugs, therapy
MyCancerGenomeSGSH
Protein Interactions : CTDSGSH
Pharm GKB GenePA35726
PharosP51688
Clinical trialSGSH
Miscellaneous
canSAR (ICR)SGSH
HarmonizomeSGSH
DataMed IndexSGSH
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSGSH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:20:25 CEST 2021

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