ARSI Gene: Arylsulfatase I
A comprehensive biomedical resource for ARSI, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ARSI |
|---|---|
| Full Name | Arylsulfatase I |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 340075 ncbi.nlm.nih.gov/gene/340075 |
| Ensembl ID | ENSG00000183876 |
| UniProt ID | Q5FYB1 |
| OMIM ID | 610009 |
| HGNC ID | 25489 |
| Aliases | ARSD, ARSI1 |
Description
The ARSI gene encodes arylsulfatase I, a member of the sulfatase family that catalyzes the hydrolysis of sulfate esters. It is involved in the metabolism of sulfated compounds and is expressed in various tissues. Mutations in ARSI are associated with multiple sulfatase deficiency and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Sulfatase Deficiency | Deficiency in arylsulfatase I activity leads to accumulation of sulfated substrates, causing neurological and skeletal abnormalities. | ClinVar, OMIM |
| Metachromatic Leukodystrophy | Potential involvement due to overlapping sulfatase functions, though direct evidence is limited. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.7 | Medium |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Very low expression |
| SH-SY5Y | 5.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function |
| c.788G>A (p.Arg263His) | Missense | <0.01% | Likely damaging |
| c.1234delG | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or non-functional protein, reducing sulfatase activity.
Gain of Function (GOF)
No gain-of-function mutations reported for ARSI.
Dominant Negative (DN)
No dominant-negative mutations reported for ARSI.
View complete mutation data：
Gene Ontology (GO)
| • arylsulfatase activity | • sulfate ester hydrolysis |
| • lysosome | • metabolic process |
Pathways
• Sulfate metabolism
• Lysosomal degradation
Protein Summary
Arylsulfatase I is a 525-amino acid protein localized to the lysosome, where it removes sulfate groups from various substrates. It is essential for normal cellular metabolism and its deficiency leads to lysosomal storage disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSI Knockout HEK293 Cell Line | EDJ-KQ12444 | Human | 340075 | Details Get a Quote |
| ARSI Knockout A-549 Cell Line | EDJ-KQ40084 | Human | 340075 | Details Get a Quote |
| ARSI Knockout HeLa Cell Line | EDJ-KQ41372 | Human | 340075 | Details Get a Quote |
| ARSI Knockout HCT 116 Cell Line | EDJ-KQ76513 | Human | 340075 | Details Get a Quote |
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