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arylsulfatase L
Summary
- Gene Symbol
-
- ARSL
- Aliases
-
- chondrodysplasia punctata 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Calcium
- Disease variant
- Glycoprotein
- Golgi apparatus
- Hydrolase
- Metal-binding
- Proteomics identification
- Reference proteome
- Signal
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| B7Z6V4 |
|
| A0A804HJF6 |
|
| F5H324 |
|
| P51690 |
|
| B7Z1M0 |
|
| A1L484 |
|
| F5GYY5 |
|
| A0A5F9ZHX8 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen | ||
| Golgi apparatus | ||
| Golgi stack | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| arylsulfatase activity | ||
| arylsulfatase 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 |
|---|
| 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
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060292 | X-linked chondrodysplasia punctata 1 | |
| DOID:2581 | chondrodysplasia punctata |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000135 | Hypogonadism |
| HP:0000252 | Microcephaly |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0000365 | Hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000420 | Short nasal septum |
| HP:0000455 | Broad nasal tip |
| HP:0000457 | Depressed nasal ridge |
| HP:0000458 | Anosmia |
| HP:0000518 | Cataract |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79345 |
|
| OMIM:302950 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP006688
- Gene Name
- arylsulfatase E (chondrodysplasia punctata 1)
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 410 | WB:WBGene00006309 | ||
| 412 | WB:WBGene00006309 | ||
| 414 | Xenbase:XB-GENE-5874310 | ||
| 415 | Xenbase:XB-GENE-6465035 | ||
| 416 | Xenbase:XB-GENE-6465035 | ||
| 2588 | WB:WBGene00006309 | ||
| 11883 | WB:WBGene00006309 | ||
| 20905 | WB:WBGene00006309 | ||
| 24800 | WB:WBGene00006309 | ||
| 50917 | WB:WBGene00006309 |
