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 zebrafish

Gene Tree: Sgsh

Human homologs

Human Homolog		SGSH, N-sulfoglucosamine sulfohydrolase
NCBI Gene ID		6448
neXtProt AC		NX_P51688
Human Synonyms		HSS, MPS3A, SFMD
Human Chr (Location)		17q25.3; chr17:80207054-80220400 (-)  GRCh38
Disease Associations		(1) Diseases Associated with Human SGSH

Alleles and phenotypes

All 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 Using Mouse Sgsh (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (8 annotations)

Process	heparan sulfate proteoglycan metabolic process
Component	extracellular vesicular exosome, lysosome
Function	hydrolase activity, N-sulfoglucosamine sulfohydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)

Data Summary: Results (96)    Tissues (96)   
Theiler Stages: 20, 22

Assay Type	Results
RNA in situ	96

cDNA source data(28)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Sgsh

Sequences

Length	Strain/Species
genomic	OTTMUSG00000003911	VEGA Gene Model | MGI Sequence Detail	12112	C57BL/6J
transcript	OTTMUST00000008669	VEGA | MGI Sequence Detail	4357	Not Applicable
polypeptide	OTTMUSP00000004222	VEGA | MGI Sequence Detail	502	Not Applicable

All sequences(56) RefSeq(2) UniProt(8)

Polymorphisms

PCR(1) : SNPs within 2kb(128 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:201412 Haurigot V, et al., Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. J Clin Invest. 2013 Jul 1;
All references(53)

Other accession IDs

MGI:2443648