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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
arylsulfatase A
Summary
- Gene Symbol
-
- ARSA
- Aliases
-
- ASA
- metachromatic leucodystrophy
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Hydrolase
- Ichthyosis
- Lipid metabolism
- Lysosome
- Metachromatic leukodystrophy
- Metal-binding
- Proteomics identification
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0C4DFZ2 |
|
| B4DVI5 |
|
| P15289 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| lysosomal lumen | ||
| endoplasmic reticulum lumen | ||
| extracellular region | ||
| lysosome | ||
| azurophil granule lumen |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| arylsulfatase activity | ||
| sulfuric ester hydrolase activity | ||
| cerebroside-sulfatase activity | ||
| calcium ion binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- arylsulfatase
- Functional Category
-
- E: Amino acid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hydrolase activity |
| 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.
Rhea
Disease
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002510 | Spastic tetraplegia |
| HP:0002607 | Bowel incontinence |
| HP:0002922 | Increased CSF protein concentration |
| HP:0003270 | Abdominal distention |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003487 | Babinski sign |
| HP:0004343 | Abnormal glycosphingolipid metabolism |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| Disease ID | Disease Name |
|---|---|
| OMIM:250100 |
|
| ORPHA:309256 |
|
| ORPHA:309271 |
|
| ORPHA:309263 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002799
- Gene Name
- arylsulfatase A
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 11883 | MGI:88077 | MOUSE15710 | ||
| 179194 | WB:WBGene00006309 | |||
| 315222 | RGD:1310381 | RATNO37345 | ||
| 447252 | Xenbase:XB-GENE-5959471 | |||
| 458946 | 9598_0:00547b | PANTR26935 | ||
| 474457 | CANLF01450 | |||
| 505514 | BOVIN30972 | |||
| 541416 | ZFIN:ZDB-GENE-050320-118 | DANRE14134 | ||
| 716500 | MACMU00712 | |||
| 100012344 | MONDO34277 |
