ARSD Gene: Arylsulfatase D
Comprehensive genomic and proteomic analysis of ARSD, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ARSD |
|---|---|
| Full Name | Arylsulfatase D |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.33 |
| NCBI Gene ID | 414 ncbi.nlm.nih.gov/gene/414 |
| Ensembl ID | ENSG00000124491 |
| UniProt ID | P51689 |
| OMIM ID | 300002 |
| HGNC ID | 718 |
| Aliases | ASD, ARSD1 |
Description
The ARSD gene encodes arylsulfatase D, a member of the sulfatase family that hydrolyzes sulfate esters. It is located on the X chromosome and is involved in steroid metabolism and lysosomal function. Mutations in ARSD are associated with X-linked ichthyosis and other metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked ichthyosis | Deficiency of arylsulfatase D leads to accumulation of sulfated steroids in the epidermis, causing abnormal skin scaling. | ClinVar, OMIM |
| Steroid sulfatase deficiency | Loss-of-function mutations in ARSD impair desulfation of steroid sulfates, affecting hormone metabolism. | OMIM |
| Chondrodysplasia punctata (X-linked recessive) | Disrupted sulfatase activity alters cholesterol sulfate metabolism, leading to skeletal abnormalities. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Liver | 8.3 | Low |
| Adrenal gland | 15.1 | Medium |
| Placenta | 20.4 | High |
| Testis | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.2 | High expression |
| HeLa | 9.8 | Medium expression |
| HepG2 | 7.1 | Low expression |
| K562 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416*) | Nonsense | <0.01% | Loss of function |
| c.1034G>A (p.Gly345Asp) | Missense | <0.01% | Reduced enzyme activity |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing steroid sulfatase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • arylsulfatase activity (GO:0004065) | • sulfuric ester hydrolase activity (GO:0008484) |
| • lysosome (GO:0005764) | • steroid metabolic process (GO:0008202) |
| • hydrolase activity (GO:0016787) |
Pathways
• Sulfate assimilation (Reactome: R-HSA-174403)
• Metabolism of steroids (Reactome: R-HSA-196854)
Protein Summary
Arylsulfatase D is a 593-amino acid glycoprotein localized to lysosomes. It catalyzes the hydrolysis of sulfate esters, particularly steroid sulfates. The protein contains a conserved sulfatase domain and requires post-translational modification for activity. Deficiency leads to accumulation of sulfated substrates, contributing to X-linked ichthyosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSD Knockout HEK293 Cell Line | EDJ-KQ4096 | Human | 414 | Details Get a Quote |
| ARSD Knockout A-549 Cell Line | EDJ-KQ26482 | Human | 414 | Details Get a Quote |
| ARSD Knockout HCT 116 Cell Line | EDJ-KQ26483 | Human | 414 | Details Get a Quote |
| AARSD1 Knockout HEK293 Cell Line | EDJ-KQ51748 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout HEK293 Cell Line | EDJ-KQ52517 | Human | 100885850 | Details Get a Quote |
| ARSD Knockout HeLa Cell Line | EDJ-KQ52663 | Human | 414 | Details Get a Quote |
| AARSD1 Knockout HeLa Cell Line | EDJ-KQ57342 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout HeLa Cell Line | EDJ-KQ60985 | Human | 100885850 | Details Get a Quote |
| AARSD1 Knockout A-549 Cell Line | EDJ-KQ65848 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout A-549 Cell Line | EDJ-KQ69459 | Human | 100885850 | Details Get a Quote |
| AARSD1 Knockout HCT 116 Cell Line | EDJ-KQ74272 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout HCT 116 Cell Line | EDJ-KQ77810 | Human | 100885850 | Details Get a Quote |
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