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Sgsh
Gene Detail
Symbol

Name
ID
Sgsh
N-sulfoglucosamine sulfohydrolase (sulfamidase)
MGI:1350341
Synonyms
4632406A19Rik, sulphamidase
Feature Type
protein coding gene
Genetic Map
Chromosome 11
83.36 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr11:119343425-119355536 bp, - strand
From VEGA annotation of GRCm38

  12112 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:167  Vertebrate Homology Class
1 human; 1 mouse; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SGSH
Gene Tree: Sgsh

Human
homologs
SGSH, N-sulfoglucosamine sulfohydrolase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6448
neXtProt AC: NX_P51688

Human Synonyms: HSS, MPS3A, SFMD

Human Chr (Location): 17q25.3; chr17:80206966-80220400 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SGSH

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities.
 
Human Diseases Modeled in Mice Using Sgsh (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Sgsh interacts with 243 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process heparan sulfate proteoglycan metabolic process
Component extracellular exosome, lysosome
Function N-sulfoglucosamine sulfohydrolase activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (96)    Tissues (96)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
cDNA source data(28)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sgsh    NEW 
Molecular
reagents
All nucleic(30) cDNA(28) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000003911 (Evidence)
Ensembl Gene Model ENSMUSG00000005043 (Evidence)
Entrez Gene 27029 (Evidence)
UniGene 103788
DFCI TC1583415, TC1601242
NIA Mouse Gene Index U033697
EC 3.10.1.1
Consensus CDS Project CCDS36384.1
International Mouse Phenotyping Consortium Status Sgsh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003911 VEGA Gene Model | MGI Sequence Detail 12112 C57BL/6J ±  kb
transcript OTTMUST00000008669 VEGA | MGI Sequence Detail 4357 Not Applicable 
polypeptide OTTMUSP00000004222 VEGA | MGI Sequence Detail 502 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(2) UniProt(8)
Polymorphisms
PCR(1) : SNPs within 2kb(128 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
InterPro IPR017850 Alkaline-phosphatase-like, core domain
InterPro IPR000917 Sulfatase
InterPro IPR024607 Sulfatase, conserved site
Protein Ontology PR:000014803 N-sulphoglucosamine sulphohydrolase
References
(Earliest) J:72142 Bhaumik M, et al., A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology. 1999 Dec;9(12):1389-96
(Latest) J:220837 Beard H, et al., Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice. Mol Genet Metab. 2015 May;115(1):33-40
All references(53)
Disease annotation references (2)
Other
accession IDs
MGI:2443648

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory