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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARSJ
arylsulfatase family member J
Chromosome 4 · 4q26
NCBI Gene: 79642Ensembl: ENSG00000180801.14HGNC: HGNC:26286UniProt: Q5FYB0
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin cytoskeletonsulfuric ester hydrolase activityarylsulfatase activityendoplasmic reticulum lumenAbnormality of the skeletal systemAbruptio Placentaehead and neck malignant neoplasiasmoking initiation
✦AI Summary

ARSJ (arylsulfatase family member J) is a sulfatase enzyme located on chromosome 4 that catalyzes the hydrolysis of sulfate ester bonds from biological substrates 1. As a member of the 17-member human sulfatase family, ARSJ contains the evolutionarily conserved active site that undergoes post-translational modification to C(alpha)-formylglycine (FGly), which is essential for catalytic activity 1. The enzyme localizes to the endoplasmic reticulum lumen and is involved in sulfuric ester hydrolase activity 2. During embryonic development, ARSJ demonstrates novel expression patterns specifically in developing joints 3. Clinically, ARSJ expression is significantly associated with colorectal cancer (CRC) overall survival, emerging as one of five key genes in predictive models for CRC prognosis 4. Additionally, ARSJ methylation status shows differential patterns in high-altitude polycythemia patients compared to healthy controls, with methylation differences reaching up to 78.1%, suggesting potential diagnostic relevance 5. ARSJ is also regulated by TGF-β signaling through miR-181b-5p in triple-negative breast cancer, linking it to oncogenic pathways 6. While the specific substrates and complete biological functions of ARSJ remain incompletely characterized, its expression patterns in developmental and pathological contexts indicate roles beyond basic cellular homeostasis.

Sources cited
1
ARSJ is one of 17 human sulfatases with conserved active site requiring FGly post-translational modification for catalytic activity
PMID: 16174644
2
ARSJ is a newly cloned human sulfatase located on chromosome 4q26 that hydrolyzes sulfate ester bonds
PMID: 16500042
3
ARSJ shows novel expression pattern in developing joints during mouse embryogenesis
PMID: 20503373
4
ARSJ expression is significantly associated with colorectal cancer overall survival in predictive models
PMID: 34965262
5
ARSJ shows differential DNA methylation in high-altitude polycythemia patients with differences up to 78.1%
PMID: 40326138
6
ARSJ is predicted to be regulated by miR-181b-5p downstream of TGF-β signaling in triple-negative breast cancer
PMID: 34326372
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.38Weak
Abruptio PlacentaeOpen Targets
0.26Weak
head and neck malignant neoplasiaOpen Targets
0.25Weak
smoking initiationOpen Targets
0.21Weak
iron metabolism diseaseOpen Targets
0.18Weak
retinal degenerationOpen Targets
0.17Weak
liver diseaseOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.09Suggestive
Genu valgumOpen Targets
0.09Suggestive
Genu varumOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.05Suggestive
Romano-Ward syndromeOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
Familial dilated cardiomyopathy with conduction defect due to LMNA mutationOpen Targets
0.05Suggestive
Atrial stand stillOpen Targets
0.04Suggestive
Familial short QT syndromeOpen Targets
0.04Suggestive
sick sinus syndrome 2, autosomal dominantOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARSKProtein interaction78%SUMF1Protein interaction76%
Tissue Expression6 tissues
Lung
100%
Ovary
64%
Heart
60%
Liver
53%
Brain
10%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ARSJARSKSUMF1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5FYB0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.53–0.95]
RankingsWhere ARSJ stands among ~20K protein-coding genes
  • #16,670of 20,598
    Most Researched11
  • #8,913of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedARSJ
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Epigenetic regulation of triple negative breast cancer (TNBC) by TGF-β signaling.
PMID: 34326372
Sci Rep · 2021
1.00
2
Expression patterns of sulfatase genes in the developing mouse embryo.
PMID: 20503373
Dev Dyn · 2010
0.86
3
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
PMID: 16174644
Hum Mol Genet · 2005
0.71
4
Predictors of colorectal cancer survival using cox regression and random survival forests models based on gene expression data.
PMID: 34965262
PLoS One · 2021
0.57
5
[Study on Differential DNA Methylation Profiles of Patients with High-Altitude Polycythemia].
PMID: 40326138
Zhongguo Shi Yan Xue Ye Xue Za Zhi · 2025
0.43