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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glucosamine (N-acetyl)-6-sulfatase
Summary
- Gene Symbol
-
- GNS
- Aliases
-
- N-acetylglucosamine-6-sulfatase
- Sanfilippo disease IIID
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Hydrolase
- Lysosome
- Metal-binding
- Mucopolysaccharidosis
- Phosphoprotein
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q7Z3X3 |
|
| P15586 |
|
| A0A024RBC5 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosaminoglycan catabolic process |
|
|
| keratan sulfate catabolic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region |
|
|
| lysosomal lumen |
|
|
| ficolin-1-rich granule lumen |
|
|
| extracellular exosome | ||
| azurophil granule lumen |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| N-acetylglucosamine-6-sulfatase activity | ||
| sulfuric ester hydrolase activity | ||
| sulfate binding | ||
| metal ion binding | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
G04652PB
G42236WQ
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110307 | hypertrophic cardiomyopathy 1 | |
| DOID:0111390 | mucopolysaccharidosis Ih | |
| DOID:0111393 | mucopolysaccharidosis type IIIC | |
| DOID:0111394 | mucopolysaccharidosis type IIIB | |
| DOID:0111395 | mucopolysaccharidosis type IIIA | |
| DOID:0111402 | mucopolysaccharidosis type IIID | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:1059 | intellectual disability | |
| DOID:11832 | visual epilepsy | |
| DOID:12798 | mucopolysaccharidosis |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0001761 | Pes cavus |
| HP:0001771 | Achilles tendon contracture |
| HP:0002007 | Frontal bossing |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002307 | Drooling |
| Disease ID | Disease Name |
|---|---|
| OMIM:252940 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 36487 | FB:FBgn0033836 | ||
| 103186133 | CALMI33869 | ||
| 102349411 | LATCH18040 | ||
| 566506 | ZFIN:ZDB-GENE-050107-5 | DANRE33314 | |
| 327635 | ZFIN:ZDB-GENE-030131-5846 | ||
| 103022579 | ASTMX08549 | ||
| 113580978 | ELEEL26556 | ||
| 115189798 | SALTR48479 | ||
| 100691814 | ORENI24104 | ||
| 115595516 | SPAAU49418 |
