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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARSF
arylsulfatase F
Chromosome X · Xp22.33
NCBI Gene: 416Ensembl: ENSG00000062096.16HGNC: HGNC:721UniProt: P54793
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
arylsulfatase activityextracellular exosomeendoplasmic reticulum lumenextracellular regionneurodegenerative diseaseBarrett's esophagusTownes-Brocks syndromepsoriasis
✦AI Summary

ARSF (arylsulfatase F) is an X-linked gene located in the Xp22.3 region that encodes a functional arylsulfatase enzyme 1. The protein exhibits heat-labile arylsulfatase activity toward the artificial substrate 4-methylumbelliferyl sulfate and is not inhibited by warfarin, distinguishing it from the related ARSE gene 1. ARSF shares a highly conserved intron/exon organization with three other Xp22.3 sulfatase genes (ARSC, ARSD, ARSE), suggesting they arose from ancestral duplication events and represent a related subfamily of proteins 1. The gene contains conserved catalytic domain residues, metal-binding sequences, and signal peptides characteristic of functional sulfatases 2. ARSF localizes to the extracellular exosome and endoplasmic reticulum lumen, suggesting roles in protein secretion and extracellular metabolism. Recent genome sequencing studies identified ARSF as a novel candidate risk gene for autism spectrum disorder in a Qatari population with high consanguinity, appearing in homozygous form in affected individuals 3. Additionally, ARSF was identified as a key differentially expressed gene in psoriatic skin tissue, implicating it in inflammatory skin disease pathogenesis 4. However, the physiological substrates and specific metabolic functions of ARSF remain largely unknown.

Sources cited
1
ARSF is located in Xp22.3, exhibits heat-labile arylsulfatase activity toward 4-methylumbelliferyl sulfate, and is not inhibited by warfarin
PMID: 9192838
2
ARSF shares highly conserved intron/exon organization with ARSC, ARSD, and ARSE genes, suggesting origin from ancestral duplication events
PMID: 9192838
3
ARSF contains conserved domain regions including signal peptides, active site residues, metal and substrate binding sequences, and N-glycosylation sites
PMID: 28257906
4
ARSF was identified as a novel candidate risk gene for autism spectrum disorder in a Qatari population, appearing in homozygous form in affected individuals
PMID: 39519104
5
ARSF was identified as a key differentially expressed gene in psoriatic skin tissue analysis
PMID: 32125527
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Barrett's esophagusOpen Targets
0.04Suggestive
Townes-Brocks syndromeOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
cardiac hypertrophyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
renovascular hypertensionOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
bronchiectasisOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
Dravet syndromeOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
meningiomaOpen Targets
0.01Suggestive
multiple sclerosisOpen Targets
0.01Suggestive
Proximal spinal muscular atrophy type 3Open Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD99Protein interaction79%XGProtein interaction77%SCML2Protein interaction74%SUMF1Protein interaction72%GYG2Protein interaction71%PRKXProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Brain
42%
Bone Marrow
2%
Lung
1%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
ARSFCD99XGSCML2SUMF1GYG2PRKX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P54793
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.71–1.25]
RankingsWhere ARSF stands among ~20K protein-coding genes
  • #15,206of 20,598
    Most Researched16
  • #13,151of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedARSF
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.
PMID: 9192838
Genomics · 1997
1.00
2
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.
PMID: 39519104
Int J Mol Sci · 2024
0.83
3
Arylsulfatase D gene in Xp22.3 encodes two protein isoforms.
PMID: 11177574
DNA Cell Biol · 2000
0.67
4
Comparative and evolutionary studies of mammalian arylsulfatase and sterylsulfatase genes and proteins encoded on the X-chromosome.
PMID: 28257906
Comput Biol Chem · 2017
0.50
5
Identification of potential key mRNAs and LncRNAs for psoriasis by bioinformatic analysis using weighted gene co-expression network analysis.
PMID: 32125527
Mol Genet Genomics · 2020
0.33