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    Galns galactosamine (N-acetyl)-6-sulfatase [ Mus musculus (house mouse) ]

    Gene ID: 50917, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Galnsprovided by MGI
    Official Full Name
    galactosamine (N-acetyl)-6-sulfataseprovided by MGI
    Primary source
    MGI:MGI:1355303
    See related
    Ensembl:ENSMUSG00000015027 AllianceGenome:MGI:1355303
    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
    mFLJ00319
    Summary
    Predicted to enable arylsulfatase activity. Predicted to be located in lysosome. Is expressed in embryo; lens epithelium; neural retina; and retina. Used to study mucopolysaccharidosis IV. Human ortholog(s) of this gene implicated in mucopolysaccharidosis IVA. Orthologous to human GALNS (galactosamine (N-acetyl)-6-sulfatase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 15.5), kidney adult (RPKM 12.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 E1; 8 71.91 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (123304976..123338226, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (122578237..122611701, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8270 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene adenine phosphoribosyl transferase Neighboring gene predicted gene, 34962 Neighboring gene 60S ribosomal protein L30 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E1777 Neighboring gene trafficking protein particle complex 2L Neighboring gene poly(A)binding protein nuclear 1-like Neighboring gene microRNA 6396

    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
    • 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. Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions? Tomatsu S, et al. Mol Genet Metab, 2015 Feb. PMID 24953405, Free PMC Article
    2. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Tomatsu S, et al. Mol Genet Metab, 2007 Jul. PMID 17498992
    3. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Tomatsu S, et al. Hum Mol Genet, 2005 Nov 15. PMID 16219627
    4. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Tomatsu S, et al. Hum Mol Genet, 2003 Dec 15. PMID 14583446
    5. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Tomatsu S, et al. Mol Genet Metab, 2006 Sep-Oct. PMID 16837223

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ00319

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N-acetylgalactosamine-6-sulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sulfuric ester hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chondroitin sulfate catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    N-acetylgalactosamine-6-sulfatase
    Names
    GalNAc6S sulfatase
    N-acetylgalactosamine-6-sulfate sulfatase
    chondroitinase
    chondroitinsulfatase
    galactosamine (N-acetyl)-6-sulfate sulfatase
    galactose-6-sulfate sulfatase
    NP_001180574.1
    NP_057931.3
    XP_006531240.1
    XP_017168383.1

    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_001193645.1 → NP_001180574.1  N-acetylgalactosamine-6-sulfatase isoform 2 precursor

      See identical proteins and their annotated locations for NP_001180574.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC151999, AI504634, AK033946, AK159592, BY348800
      Consensus CDS
      CCDS85625.1
      UniProtKB/TrEMBL
      Q8CC47
      Related
      ENSMUSP00000148591.2, ENSMUST00000212319.2
      Conserved Domains (2) summary
      COG3119
      Location:28 → 335
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:27 → 412
      ALP_like; alkaline phosphatases and sulfatases

    2. NM_016722.4 → NP_057931.3  N-acetylgalactosamine-6-sulfatase isoform 1 precursor

      See identical proteins and their annotated locations for NP_057931.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI504634, AK159592, BY348800
      Consensus CDS
      CCDS40504.1
      UniProtKB/Swiss-Prot
      Q3TWQ4, Q571E4, Q99KU8, Q9JHK9
      Related
      ENSMUSP00000015171.10, ENSMUST00000015171.11
      Conserved Domains (2) summary
      PRK13759
      Location:28 → 473
      PRK13759; arylsulfatase; Provisional
      cd16157
      Location:27 → 492
      GALNS; galactosamine-6-sulfatase; also known as N-acetylgalactosamine-6-sulfatase (GALNS)

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      123304976..123338226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312894.2 → XP_017168383.1  N-acetylgalactosamine-6-sulfatase isoform X1

      Conserved Domains (1) summary
      cl23718
      Location:1 → 382
      ALP_like; alkaline phosphatases and sulfatases

    2. XM_006531177.3 → XP_006531240.1  N-acetylgalactosamine-6-sulfatase isoform X2

      Conserved Domains (1) summary
      cl23718
      Location:27 → 332
      ALP_like; alkaline phosphatases and sulfatases

    RNA

    1. XR_387755.3 RNA Sequence

    2. XR_387756.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q571E4.2 GenPept UniProtKB/Swiss-Prot:Q571E4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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