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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 |
|---|---|---|
| endoplasmic reticulum lumen |
|
|
| extracellular region |
|
|
| lysosomal lumen |
|
|
| extracellular exosome | ||
| lysosome |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cerebroside-sulfatase activity | ||
| sulfuric ester hydrolase activity | ||
| calcium ion binding | ||
| protein binding | ||
| arylsulfatase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0014667 | disease of metabolism | |
| DOID:0040085 | bacterial sepsis | |
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050441 | mucosulfatidosis | |
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050564 | autosomal dominant nonsyndromic deafness | |
| DOID:0050565 | autosomal recessive nonsyndromic deafness | |
| DOID:0050566 | X-linked nonsyndromic deafness | |
| DOID:0050569 | Seckel syndrome | |
| DOID:0050589 | inflammatory bowel disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000648 | Optic atrophy |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000712 | Emotional lability |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000736 | Short attention span |
| HP:0000738 | Hallucinations |
| HP:0000746 | Delusion |
| Disease ID | Disease Name |
|---|---|
| ORPHA:309271 |
|
| ORPHA:309263 |
|
| ORPHA:309256 |
|
| OMIM:250100 |
|
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 | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 179194 | WB:WBGene00006309 | ||
| 103190820 | CALMI44451 | ||
| 102357546 | LATCH07514 | ||
| 541416 | ZFIN:ZDB-GENE-050320-118 | DANRE14134 | |
| 103028271 | ASTMX16565 | ||
| 113580520 | ELEEL25625 | ||
| 100195737 | SALSA07712 | ||
| 115197260 | SALTR12374 | ||
| 115551345 | GADMO59551 | ||
| 100698730 | ORENI64584 |
