Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sgshprovided by MGI
Official Full Name: N-sulfoglucosamine sulfohydrolase (sulfamidase)provided by MGI
Primary source: MGI:MGI:1350341
See related: Ensembl:ENSMUSG00000005043 AllianceGenome:MGI:1350341
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 4632406A19Rik
Summary: Enables sulfuric ester hydrolase activity. Predicted to be involved in glycosaminoglycan catabolic process and heparan sulfate proteoglycan catabolic process. Predicted to act upstream of or within heparan sulfate proteoglycan metabolic process. Predicted to be located in lysosome. Used to study mucopolysaccharidosis III. Human ortholog(s) of this gene implicated in mucopolysaccharidosis III and mucopolysaccharidosis type IIIA. Orthologous to human SGSH (N-sulfoglucosamine sulfohydrolase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in adrenal adult (RPKM 23.1), lung adult (RPKM 17.3) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 83.36 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (119234315..119246336, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (119343489..119355510, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?
Title: Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

ODOSTSI (e-PCR)
- UniSTS:55605

Sgsh (e-PCR), detects polymorphism
- UniSTS:166204

NoName (e-PCR)
- UniSTS:236784

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-sulfoglucosamine sulfohydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-sulfoglucosamine sulfohydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables N-sulfoglucosamine sulfohydrolase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfuric ester hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables sulfuric ester hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glycosaminoglycan catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosaminoglycan catabolic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heparan sulfate proteoglycan metabolic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within motor behavior	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in lysosomal lumen	IMP Inferred from Mutant Phenotype more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: N-sulphoglucosamine sulphohydrolase

Names: sulphamidase

NP_061292.2

EC 3.10.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018822.3 → NP_061292.2 N-sulphoglucosamine sulphohydrolase precursor

See identical proteins and their annotated locations for NP_061292.2

Status: VALIDATED

Source sequence(s)

AK076267, AK141266, AL645911

Consensus CDS

CCDS36384.1

UniProtKB/TrEMBL

A1L3T3, Q9EQ07, Q9EQ08

Related

ENSMUSP00000005173.5, ENSMUST00000005173.11

Conserved Domains (2) summary

COG3119
Location:20 → 464

AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]

cd16027
Location:24 → 472

SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)