ARSF Gene: Arylsulfatase F
Comprehensive genomic and functional analysis of ARSF
Gene Information Card
| Symbol | ARSF |
|---|---|
| Full Name | Arylsulfatase F |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.3 |
| NCBI Gene ID | 416 ncbi.nlm.nih.gov/gene/416 |
| Ensembl ID | ENSG00000182372 |
| UniProt ID | P54793 |
| OMIM ID | 300001 |
| HGNC ID | 718 |
| Aliases | ASF, ARSF1 |
Description
The ARSF gene encodes arylsulfatase F, a member of the sulfatase family that catalyzes the hydrolysis of sulfate esters. It is located on the X chromosome and is involved in steroid metabolism and cellular signaling. Mutations in ARSF are associated with X-linked ichthyosis and other metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked ichthyosis | Deficiency of arylsulfatase F leads to accumulation of sulfated steroids, causing skin scaling. | ClinVar, OMIM |
| Steroid sulfatase deficiency | Loss-of-function mutations impair desulfation of steroid sulfates. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.1 | Low |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.2 | High expression in skin-derived cells |
| HepG2 | 7.8 | Moderate expression |
| HEK293 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.876_877del (p.Glu293fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • sulfuric ester hydrolase activity (GO:0008484) | • metabolic process (GO:0008152) |
| • cytoplasm (GO:0005737) |
Pathways
• Steroid hormone biosynthesis (Reactome R-HSA-196854)
Protein Summary
Arylsulfatase F is a 593-amino acid protein that localizes to the cytoplasm and functions as a sulfatase, cleaving sulfate groups from steroid substrates. It is essential for normal skin development and steroid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSF Knockout HEK293 Cell Line | EDJ-KQ4098 | Human | 416 | Details Get a Quote |
| ARSF Knockout HeLa Cell Line | EDJ-KQ52665 | Human | 416 | Details Get a Quote |
| ARSF Knockout A-549 Cell Line | EDJ-KQ61137 | Human | 416 | Details Get a Quote |
| ARSF Knockout HCT 116 Cell Line | EDJ-KQ69625 | Human | 416 | Details Get a Quote |
