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 al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] See more...

Aliases for ARSK Gene

Aliases for ARSK Gene

  • Arylsulfatase Family Member K 2 3 5
  • Arylsulfatase K 2 3 4
  • TSULF 2 3 4
  • Telethon Sulfatase 3 4
  • ASK 3 4
  • Arylsulfatase Family, Member K 2
  • DKFZp313G1735 2
  • EC 3.1.6.- 4
  • EC 3.1.6 50
  • ARSK 5

External Ids for ARSK Gene

Previous GeneCards Identifiers for ARSK Gene

  • GC05P094917
  • GC05P090081

Summaries for ARSK Gene

Entrez Gene Summary for ARSK Gene

  • 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 al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ARSK Gene

ARSK (Arylsulfatase Family Member K) is a Protein Coding gene. Diseases associated with ARSK include Myopathy, Myosin Storage, Autosomal Dominant and Mucopolysaccharidosis, Type Iiic. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSD.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARSK Gene

Genomics for ARSK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARSK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARSK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARSK

Top Transcription factor binding sites by QIAGEN in the ARSK gene promoter:
  • ATF6
  • E2F-4
  • E2F-5
  • GATA-1
  • GATA-2
  • GATA-3
  • HFH-1
  • Lmo2
  • PPAR-alpha
  • TBP

Genomic Locations for ARSK Gene

Latest Assembly
chr5:95,555,101-95,605,102
(GRCh38/hg38)
Size:
50,002 bases
Orientation:
Plus strand

Previous Assembly
chr5:94,890,805-94,940,806
(GRCh37/hg19 by Entrez Gene)
Size:
50,002 bases
Orientation:
Plus strand

chr5:94,890,778-94,940,768
(GRCh37/hg19 by Ensembl)
Size:
49,991 bases
Orientation:
Plus strand

Genomic View for ARSK Gene

Genes around ARSK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARSK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARSK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARSK Gene

Proteins for ARSK Gene

  • Protein details for ARSK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWY0-ARSK_HUMAN
    Recommended name:
    Arylsulfatase K
    Protein Accession:
    Q6UWY0
    Secondary Accessions:
    • A2BDE3
    • B4E1I4
    • Q3ZCW3
    • Q8N3Q8

    Protein attributes for ARSK Gene

    Size:
    536 amino acids
    Molecular mass:
    61450 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH36047.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ARSK Gene

Selected DME Specific Peptides for ARSK Gene

Q6UWY0:
  • YNKEQFI
  • FLLRQEGRP
  • VSLVDIYPT
  • YTNSPICCPSRAAMWSG
  • YYAMCAE
  • NASTYML
  • DPDELTN
  • NLSGYSLL
  • YPKVSASVH
  • GENFGSSTF
  • SNRVEAWTRDV
  • NVIANLRWH
  • HLTESWNN
  • PPWILSEFHGCN
  • GQNYSNVIA
  • TQKFGKLDY
  • MHPVDYYS

Post-translational modifications for ARSK Gene

  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
  • Glycosylation at Asn108, Asn166, Asn193, Asn262, Asn375, Asn413, and Asn498
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSK Gene

Domains & Families for ARSK Gene

Gene Families for ARSK Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ARSK Gene

InterPro:
Blocks:
  • Sulfatase

Suggested Antigen Peptide Sequences for ARSK Gene

GenScript: Design optimal peptide antigens:
  • Telethon sulfatase (ARSK_HUMAN)
  • cDNA, FLJ79152, highly similar to Arylsulfatase K (EC 3.1.6.-) (B7ZAD8_HUMAN)
  • ARSK protein (Q86W75_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UWY0

UniProtKB/Swiss-Prot:

ARSK_HUMAN :
  • Belongs to the sulfatase family.
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with ARSK: view

Function for ARSK Gene

Enzyme Numbers (IUBMB) for ARSK Gene

Gene Ontology (GO) - Molecular Function for ARSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004065 arylsulfatase activity TAS 16174644
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARSK: view
genes like me logo Genes that share phenotypes with ARSK: view

Animal Models for ARSK Gene

MGI Knock Outs for ARSK:
  • Arsk Arsk<tm1b(KOMP)Wtsi>

miRNA for ARSK Gene

miRTarBase miRNAs that target ARSK

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSK

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARSK Gene

Localization for ARSK Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSK Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARSK gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
lysosome 2
nucleus 1
golgi apparatus 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARSK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with ARSK: view

Pathways & Interactions for ARSK Gene

genes like me logo Genes that share pathways with ARSK: view

Gene Ontology (GO) - Biological Process for ARSK Gene

None

No data available for SIGNOR curated interactions for ARSK Gene

Drugs & Compounds for ARSK Gene

(1) Drugs for ARSK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with ARSK: view

Transcripts for ARSK Gene

mRNA/cDNA for ARSK Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSK

Alternative Splicing Database (ASD) splice patterns (SP) for ARSK Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for ARSK Gene

GeneLoc Exon Structure for
ARSK

Expression for ARSK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARSK Gene

Protein differential expression in normal tissues from HIPED for ARSK Gene

This gene is overexpressed in CD8 Tcells (30.1) and Ovary (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARSK Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARSK

SOURCE GeneReport for Unigene cluster for ARSK Gene:

Hs.585051

Evidence on tissue expression from TISSUES for ARSK Gene

  • Nervous system(4.3)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with ARSK: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSK Gene

Orthologs for ARSK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARSK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARSK 29 30
  • 99.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARSK 29 30
  • 89.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARSK 29 30
  • 88.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arsk 29 16 30
  • 83.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arsk 29
  • 83.55 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ARSK 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARSK 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARSK 29 30
  • 74.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARSK 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arsk 29
  • 68.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii arsk 29 30
  • 63.15 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG12014 30
  • 20 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00309g 29
  • 39.68 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08364 29
  • 40.78 (n)
Species where no ortholog for ARSK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARSK Gene

ENSEMBL:
Gene Tree for ARSK (if available)
TreeFam:
Gene Tree for ARSK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARSK: view image
Alliance of Genome Resources:
Additional Orthologs for ARSK

Paralogs for ARSK Gene

(1) SIMAP similar genes for ARSK Gene using alignment to 6 proteins:

  • ARSK_HUMAN
  • D6R9F9_HUMAN
  • D6RBR4_HUMAN
  • E9PGI0_HUMAN
  • H0Y9F6_HUMAN
  • Q86W75_HUMAN
genes like me logo Genes that share paralogs with ARSK: view

Variants for ARSK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARSK Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs1554055537 Uncertain Significance: not provided 95,600,913(+) CATTT/C
NM_198150.3(ARSK):c.1165_1168del (p.Phe389fs)
FRAMESHIFT
rs17084927 -- p.Gln525Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARSK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARSK Gene

Variant ID Type Subtype PubMed ID
nsv598955 CNV gain 21841781
nsv830408 CNV loss 17160897

Variation tolerance for ARSK Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSK Gene

Human Gene Mutation Database (HGMD)
ARSK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARSK
Leiden Open Variation Database (LOVD)
ARSK

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARSK Gene

Disorders for ARSK Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARSK Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search ARSK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARSK

genes like me logo Genes that share disorders with ARSK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARSK Gene

Publications for ARSK Gene

  1. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PMID: 16174644) Sardiello M … Ballabio A (Human molecular genetics 2005) 2 3 4
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  3. Molecular cloning and initial characterization of three novel human sulfatases. (PMID: 16500042) Obaya AJ (Gene 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. (PMID: 29449217) Noguchi A … Kawahara H (Biology open 2018) 3

Products for ARSK Gene

Sources for ARSK Gene