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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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