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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
arylsulfatase G
Summary
- Gene Symbol
-
- ARSG
- Aliases
-
- KIAA1001
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Calcium
- Disease variant
- Disulfide bond
- Glycoprotein
- Hydrolase
- Lysosome
- Metal-binding
- Reference proteome
- Retinitis pigmentosa
- Signal
- Usher syndrome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96EG1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| sulfur compound metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen |
|
|
| endoplasmic reticulum | ||
| extracellular space | ||
| lysosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| metal ion binding | ||
| N-sulfoglucosamine-3-sulfatase activity | ||
| arylsulfatase activity |
GO Hierarchy
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:10581 | metachromatic leukodystrophy | |
| DOID:0050439 | Usher syndrome | |
| DOID:0050534 | congenital stationary night blindness | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0050835 | generalized dystonia | |
| DOID:0050836 | focal dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0110720 | neuronal ceroid lipofuscinosis 4 | |
| DOID:0110721 | neuronal ceroid lipofuscinosis 1 | |
| DOID:0110722 | neuronal ceroid lipofuscinosis 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000375 | Abnormal cochlea morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0000483 | Astigmatism |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000518 | Cataract |
| HP:0000546 | Retinal degeneration |
| HP:0000572 | Visual loss |
| HP:0000575 | Scotoma |
| Disease ID | Disease Name |
|---|---|
| ORPHA:231183 |
|
| OMIM:618144 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP005434
- Gene Name
- arylsulfatase G
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103175517 | CALMI08194 | ||
| 102363561 | LATCH16270 | ||
| 564790 | ZFIN:ZDB-GENE-060503-154 | DANRE03873 | |
| 103910035 | DANRE03873 | ||
| 108273761 | ICTPU05096 | ||
| 113574855 | ELEEL17077 | ||
| 106589598 | SALSA118501 | ||
| 115201402 | SALTR100192 | ||
| 115531290 | GADMO23731 | ||
| 100711085 | ORENI73012 |
