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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
arylsulfatase family member I
Summary
- Gene Symbol
-
- ARSI
- Aliases
-
- FLJ16069
- SPG66
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 340075
- HGNC
- 32521
- KEGG Gene ID
- hsa:340075
- PubChem
- 340075
- Alliance of Genome Resources
Annotation
- Keyword
-
- Alternative splicing
- Calcium
- Endoplasmic reticulum
- Glycoprotein
- Hydrolase
- Metal-binding
- Oxidation
- Reference proteome
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q5FYB1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen |
|
|
| extracellular region |
| GO Term | Evidence Code | PMID |
|---|---|---|
| metal ion binding | ||
| protein binding | ||
| arylsulfatase activity |
|
GO Hierarchy
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050572 | cone-rod dystrophy | |
| DOID:10534 | stomach cancer | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:1059 | intellectual disability | |
| DOID:11105 | fundus albipunctatus | |
| DOID:114 | heart disease | |
| DOID:11836 | clubfoot | |
| DOID:12139 | dysthymic disorder | |
| DOID:12849 | autistic disorder | |
| DOID:1287 | cardiovascular system disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001284 | Areflexia |
| HP:0001301 | Chronic sensorineural polyneuropathy |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001762 | Talipes equinovarus |
| HP:0002061 | Lower limb spasticity |
| HP:0002064 | Spastic gait |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002355 | Difficulty walking |
| Disease ID | Disease Name |
|---|---|
| ORPHA:401815 |
|
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 183778 | WB:WBGene00006310 | ||
| 36394 | FB:FBgn0033763 | ||
| 39991 | FB:FBgn0036765 | ||
| 39994 | FB:FBgn0036768 | ||
| 317903 | FB:FBgn0052191 | ||
| 100187202 | CIOIN13273 | ||
| 103188236 | CALMI38632 | ||
| 102362448 | LATCH18822 | ||
| 563783 | ZFIN:ZDB-GENE-100819-1 | ||
| 100329483 | ZFIN:ZDB-GENE-140106-141 |
