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MIRAGE
galactosamine (N-acetyl)-6-sulfatase
Summary
- Gene Symbol
-
- GALNS
- Aliases
-
- GALNAC6S
- GAS
- GalN6S
- Morquio syndrome
- N-acetylgalactosamine-6-sulfatase
- chondroitinase
- chondroitinsulfatase
- galactose-6-sulfate sulfatase
- mucopolysaccharidosis type IVA
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Calcium
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dwarfism
- Glycoprotein
- Hydrolase
- Lysosome
- Metal-binding
- Mucopolysaccharidosis
- Reference proteome
- Signal
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| azurophil granule lumen | ||
| lysosomal lumen | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| N-acetylgalactosamine-4-sulfatase activity | ||
| arylsulfatase activity | ||
| sulfuric ester hydrolase activity | ||
| N-acetylgalactosamine-6-sulfatase activity | ||
| metal ion binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- arylsulfatase i
- Functional Category
-
- E: Amino acid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| sulfuric ester hydrolase activity |
| InterPro |
|---|
| Alkaline-phosphatase-like, core domain superfamily |
| Sulfatase, N-terminal |
| Sulfatase, conserved site |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
G77399JK
G71561JP
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111391 | mucopolysaccharidosis IVA | |
| DOID:0111392 | mucopolysaccharidosis type IVB | |
| DOID:12804 | mucopolysaccharidosis IV |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000768 | Pectus carinatum |
| HP:0000884 | Prominent sternum |
| HP:0000904 | Flaring of rib cage |
| HP:0000926 | Platyspondyly |
| HP:0000939 | Osteoporosis |
| HP:0000943 | Dysostosis multiplex |
| HP:0001223 | Pointed proximal second through fifth metacarpals |
| HP:0001249 | Intellectual disability |
| HP:0001270 | Motor delay |
| HP:0001382 | Joint hypermobility |
| Disease ID | Disease Name |
|---|---|
| OMIM:253000 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101712119 | HETGA25101 | ||
| 101811724 | FICAL11901 | ||
| 101876146 | MELUD19293 | ||
| 101934226 | CHRPI07654 | ||
| 101956007 | ICTTR15338 | ||
| 102190539 | CAPHI08363 | ||
| 102351372 | LATCH03438 | ||
| 102428724 | MYOLU10452 | ||
| 102445221 | PELSI03171 | ||
| 103233460 | CHLSB14976 |
