ARSK (Arylsulfatase Family Member K)
A lysosomal sulfatase involved in heparan sulfate degradation and associated with mucopolysaccharidosis-like disorders.
Gene Information Card
| Symbol | ARSK |
|---|---|
| Full Name | Arylsulfatase Family Member K |
| Gene Type | Protein coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 153642 ncbi.nlm.nih.gov/gene/153642 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q6UWY0 |
| OMIM ID | 610009 |
| HGNC ID | 25208 |
| Aliases | ARSK1, MPS-like, sulfatase K |
Description
ARSK encodes a member of the arylsulfatase family, a lysosomal enzyme that catalyzes the hydrolysis of sulfate esters from glycosaminoglycans, specifically heparan sulfate. Mutations in ARSK lead to a mild form of mucopolysaccharidosis (MPS-like disorder) characterized by skeletal abnormalities and developmental delay. The gene is expressed in multiple tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucopolysaccharidosis-like disorder (MPS-like) | Loss-of-function mutations impair heparan sulfate degradation, leading to lysosomal accumulation. | ClinVar, OMIM |
| Skeletal dysplasia | Accumulation of glycosaminoglycans disrupts bone and cartilage development. | OMIM, PubMed |
| Developmental delay | Neuronal lysosomal storage affects cognitive function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 6.8 | Low |
| Lung | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| HEK293 | 9.7 | Embryonic kidney cell line |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
| A549 | 5.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Loss of function, premature stop codon |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Reduced enzymatic activity |
| c.1487delC (p.Pro496Leufs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported ARSK mutations are loss-of-function, leading to reduced or absent sulfatase activity and lysosomal storage.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARSK.
Dominant Negative (DN)
No dominant-negative mutations have been described for ARSK.
View complete mutation data：
Gene Ontology (GO)
| • arylsulfatase activity (GO:0004065) | • lysosome (GO:0005764) |
| • metabolic process (GO:0008152) | • glycosaminoglycan metabolic process (GO:0030203) |
Pathways
• Glycosaminoglycan degradation (KEGG: hsa00531)
• Lysosome (KEGG: hsa04142)
Protein Summary
The ARSK protein is a 525-amino acid lysosomal sulfatase with a molecular weight of approximately 58 kDa. It contains a conserved sulfatase domain and requires post-translational modification (Cα-formylglycine) for catalytic activity. The enzyme specifically removes sulfate groups from heparan sulfate, contributing to the stepwise degradation of glycosaminoglycans. Deficiency leads to accumulation of partially degraded heparan sulfate in lysosomes, causing cellular dysfunction and clinical symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSK Knockout HEK293 Cell Line | EDJ-KQ11526 | Human | 153642 | Details Get a Quote |
| ARSK Knockout HCT 116 Cell Line | EDJ-KQ38511 | Human | 153642 | Details Get a Quote |
| ARSK Knockout A-549 Cell Line | EDJ-KQ39841 | Human | 153642 | Details Get a Quote |
| ARSK Knockout HeLa Cell Line | EDJ-KQ39842 | Human | 153642 | Details Get a Quote |
