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    Arsk arylsulfatase K [ Mus musculus (house mouse) ]

    Gene ID: 77041, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Arskprovided by MGI
    Official Full Name
    arylsulfatase Kprovided by MGI
    Primary source
    MGI:MGI:1924291
    See related
    Ensembl:ENSMUSG00000021592 AllianceGenome:MGI:1924291
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ASK; 2810429K17Rik; 4833414G15Rik
    Summary
    Enables glucuronate-2-sulfatase activity. Predicted to be located in extracellular region and lysosome. Is expressed in aorta; genitourinary system; heart; and spinal cord. Used to study mucopolysaccharidosis. Human ortholog(s) of this gene implicated in mucopolysaccharidosis. Orthologous to human ARSK (arylsulfatase family member K). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 3.6), kidney adult (RPKM 3.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arsk in Genome Data Viewer
    Location:
    13 C1; 13 40.95 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (76208829..76246744, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (76060422..76098660, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52035 Neighboring gene G protein-coupled receptor 150 Neighboring gene predicted gene, 41006 Neighboring gene predicted gene, 31161 Neighboring gene STARR-positive B cell enhancer ABC_E8536 Neighboring gene STARR-positive B cell enhancer ABC_E2413 Neighboring gene SKI3 subunit of superkiller complex Neighboring gene STARR-seq mESC enhancer starr_35057 Neighboring gene STARR-seq mESC enhancer starr_35058 Neighboring gene family with sequence similarity 81, member B Neighboring gene predicted gene, 31219

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate. Trabszo C, et al. Biochem J, 2020 Sep 18. PMID 32856704, Free PMC Article
    2. Expression patterns of sulfatase genes in the developing mouse embryo. Ratzka A, et al. Dev Dyn, 2010 Jun. PMID 20503373
    3. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Sardiello M, et al. Hum Mol Genet, 2005 Nov 1. PMID 16174644
    4. Dynamic Expression of Genes Involved in Proteoglycan/Glycosaminoglycan Metabolism during Skin Development. Uijtdewilligen PJE, et al. Biomed Res Int, 2018. PMID 30228991, Free PMC Article
    5. Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. Sundberg JP, et al. PLoS One, 2017. PMID 28700664, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.
      Title: Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables arylsulfatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables arylsulfatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glucuronate-2-sulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronate-2-sulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables glucuronate-2-sulfatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glucuronate-2-sulfatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    arylsulfatase K
    Names
    glucuronate-2-sulfatase
    NP_001347772.1
    NP_001391828.1
    NP_001391840.1
    NP_084123.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001360843.2 → NP_001347772.1  arylsulfatase K isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122242
      Conserved Domains (1) summary
      cl23718
      Location:36 → 342
      ALP_like; alkaline phosphatases and sulfatases

    2. NM_001404899.1 → NP_001391828.1  arylsulfatase K isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122242

    3. NM_001404911.1 → NP_001391840.1  arylsulfatase K isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122242

    4. NM_029847.5 → NP_084123.3  arylsulfatase K isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC122242
      Consensus CDS
      CCDS49315.1
      UniProtKB/Swiss-Prot
      Q6PE11, Q8BL50, Q8BUA1, Q9CYZ0, Q9D2L1
      Related
      ENSMUSP00000158928.2, ENSMUST00000239063.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      76208829..76246744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D2L1.2 GenPept UniProtKB/Swiss-Prot:Q9D2L1

    Gene LinkOut

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