Gene
sgsh
- ID
- ZDB-GENE-030131-4958
- Name
- N-sulfoglucosamine sulfohydrolase (sulfamidase)
- Symbol
- sgsh Nomenclature History
- Previous Names
-
- wu:fe14h11
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Enables N-sulfoglucosamine sulfohydrolase activity. Involved in heparan sulfate proteoglycan catabolic process. Acts upstream of or within locomotory behavior; microglial cell activation; and thigmotaxis. Human ortholog(s) of this gene implicated in mucopolysaccharidosis III and mucopolysaccharidosis type IIIA. Orthologous to human SGSH (N-sulfoglucosamine sulfohydrolase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Douek et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Douek et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| mnu301 | Allele with one delins | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sgsh | Douek et al., 2021 | |
| CRISPR2-sgsh | Douek et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mucopolysaccharidosis type IIIA | Alliance | Mucopolysaccharidosis type IIIA (Sanfilippo A) | 252900 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Alkaline-phosphatase-like, core domain superfamily | Sulfatase, conserved site | Sulfatase, N-terminal |
|---|---|---|---|---|---|
| UniProtKB:B0V3V9 | InterPro | 511 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-16H20 | ZFIN Curated Data | |
| Encodes | EST | fe14h11 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001123268 (1) | 1953 nt | ||
| Genomic | GenBank:CU459096 (1) | 80883 nt | ||
| Polypeptide | UniProtKB:B0V3V9 (1) | 511 aa |
- Douek, A.M., Amiri Khabooshan, M., Henry, J., Stamatis, S.A., Kreuder, F., Ramm, G., Änkö, M.L., Wlodkowic, D., Kaslin, J. (2021) An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA. International Journal of Molecular Sciences. 22(11):
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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