Gene Gene information from NCBI Gene database.
Entrez ID 153642
Gene name Arylsulfatase family member K
Gene symbol ARSK
Synonyms (NCBI Gene)
MPS10TSULF
Chromosome 5
Chromosome location 5q15
Summary Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et
miRNA miRNA information provided by mirtarbase database.
506
miRTarBase ID miRNA Experiments Reference
MIRT692035 hsa-miR-4794 HITS-CLIP 23313552
MIRT692034 hsa-miR-664a-5p HITS-CLIP 23313552
MIRT692033 hsa-miR-149-5p HITS-CLIP 23313552
MIRT692032 hsa-miR-3064-5p HITS-CLIP 23313552
MIRT692031 hsa-miR-6504-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0004065 Function Arylsulfatase activity IBA
GO:0004065 Function Arylsulfatase activity IEA
GO:0004065 Function Arylsulfatase activity IMP 23986440
GO:0004065 Function Arylsulfatase activity TAS 16174644
GO:0005576 Component Extracellular region IDA 23986440
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610011 25239 ENSG00000164291
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWY0
Protein name Arylsulfatase K (ASK) (EC 3.1.6.1) (Glucuronate-2-sulfatase) (EC 3.1.6.18) (Telethon sulfatase)
Protein function Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate (PubMed:23986440). Catalyzes the hydrolysis of the 2-sulfate groups of the 2-O-sulfo-D-glucuronate residues of chondroitin sulfate, heparin an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 32 370 Sulfatase Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the placenta and pancreas (PubMed:23986440). Expressed at intermediate levels in the lung, brain, heart, liver and kidney and at low levels in the muscle (PubMed:23986440). {ECO:0000269|PubMed:23986440}.
Sequence
Sequence length 536
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Glycosphingolipid metabolism
The activation of arylsulfatases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mucopolysaccharidosis, type 10 Pathogenic rs147168858, rs762342379, rs749379584 RCV001807550
RCV001807551
RCV002281190
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARSK-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukodystrophy Metachromatic Metachromatic leukodystrophy Pubtator 23986440 Inhibit
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma Pubtator 38254162 Associate
★☆☆☆☆
Found in Text Mining only