ARSL Gene Summary [Human]
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
Details
| Type | Retained Intron |
| Official Symbol | ARSL |
| Official Name | arylsulfatase L [Source:HGNC Symbol;Acc:HGNC:719] |
| Ensembl ID | ENSG00000157399 |
| Bio databases IDs | |
| Aliases | arylsulfatase L, chondrodysplasia punctata 1 |
| Synonyms | ARSE, arylsulfatase L, ASE, CDPX, CDPX1, CDPXR, chondrodysplasia punctata 1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARSL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alkaline phosphatases and sulfatases
- Domain of unknown function (DUF4976)
- Sulfatase
- enzyme
- arylsulfatase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- endoplasmic reticulum lumen
- Golgi stacks
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARSL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular vesicular exosome
- Golgi apparatus
- Golgi stack
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- arylsulfatase activity