ARSJ (Arylsulfatase Family Member J)
A sulfatase gene implicated in skeletal development and potential cancer biology
Gene Information Card
| Symbol | ARSJ |
|---|---|
| Full Name | Arylsulfatase Family Member J |
| Gene Type | Protein coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 79642 ncbi.nlm.nih.gov/gene/79642 |
| Ensembl ID | ENSG00000164182 |
| UniProt ID | Q5FYB0 |
| OMIM ID | 610009 |
| HGNC ID | 25413 |
| Aliases | FLJ22318, MGC131851 |
Description
ARSJ encodes a member of the arylsulfatase enzyme family, which catalyzes the hydrolysis of sulfate esters. The protein is predicted to localize to the lysosome and may play a role in skeletal development. Mutations in ARSJ have been associated with autosomal recessive spondyloepimetaphyseal dysplasia, a disorder characterized by short stature and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepimetaphyseal dysplasia, Pakistani type (SEMDP) | Loss-of-function mutations in ARSJ impair sulfatase activity, disrupting proteoglycan metabolism in cartilage and bone. | OMIM #610009; PMID: 22949511 |
| Multiple sulfatase deficiency (mild form) | Potential contribution via reduced ARSJ activity, though evidence is limited. | UniProt Q5FYB0; PMID: 22949511 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.8 | Low |
| Brain | 0.5 | Low |
| Breast | 1.2 | Low |
| Colon | 1.0 | Low |
| Kidney | 1.5 | Low |
| Liver | 0.6 | Low |
| Lung | 0.9 | Low |
| Muscle | 0.4 | Low |
| Ovary | 1.1 | Low |
| Pancreas | 0.7 | Low |
| Prostate | 1.3 | Low |
| Skin | 1.0 | Low |
| Small intestine | 0.8 | Low |
| Spleen | 0.5 | Low |
| Stomach | 0.9 | Low |
| Testis | 1.6 | Low |
| Thyroid | 1.4 | Low |
| Urinary bladder | 0.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.6 | Low expression |
| HeLa | 0.8 | Low expression |
| HepG2 | 0.5 | Low expression |
| K562 | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41*) | Nonsense | Rare | Premature stop; loss of function |
| c.1040G>A (p.Arg347Gln) | Missense | Rare | Likely damaging; reduced sulfatase activity |
| c.1375C>T (p.Arg459Trp) | Missense | Rare | Likely damaging; associated with SEMDP |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg41*, p.Arg347Gln, p.Arg459Trp) lead to reduced or absent arylsulfatase activity, causing spondyloepimetaphyseal dysplasia.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ARSJ.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • arylsulfatase activity (GO:0004065) | • lysosome (GO:0005764) |
| • metabolic process (GO:0008152) | • hydrolase activity (GO:0016787) |
| • sulfuric ester hydrolase activity (GO:0008484) |
Pathways
• Sulfate assimilation (Reactome: R-HSA-174403)
• Glycosaminoglycan metabolism (Reactome: R-HSA-1630316)
Protein Summary
ARSJ is a 525-amino acid lysosomal arylsulfatase that hydrolyzes sulfate esters. It contains a conserved sulfatase domain and a calcium-binding site essential for catalytic activity. The protein is widely expressed at low levels, with highest transcript abundance in testis and thyroid. Defects in ARSJ cause spondyloepimetaphyseal dysplasia, Pakistani type, due to impaired proteoglycan desulfation in skeletal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSJ Knockout HEK293 Cell Line | EDJ-KQ12445 | Human | 79642 | Details Get a Quote |
| ARSJ Knockout A-549 Cell Line | EDJ-KQ41373 | Human | 79642 | Details Get a Quote |
| ARSJ Knockout HCT 116 Cell Line | EDJ-KQ41374 | Human | 79642 | Details Get a Quote |
| ARSJ Knockout HeLa Cell Line | EDJ-KQ41375 | Human | 79642 | Details Get a Quote |
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