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Arsa arylsulfatase A [ Mus musculus (house mouse) ]

Gene ID: 11883, updated on 28-Oct-2024

Summary

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Official Symbol
Arsaprovided by MGI
Official Full Name
arylsulfatase Aprovided by MGI
Primary source
MGI:MGI:88077
See related
Ensembl:ENSMUSG00000022620 AllianceGenome:MGI:88077
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
ASA; As2; AS-A; As-2; TISP73
Summary
Predicted to enable arylsulfatase activity and calcium ion binding activity. Acts upstream of or within binding activity of sperm to zona pellucida. Located in plasma membrane. Is expressed in brain and genitourinary system. Used to study metachromatic leukodystrophy. Human ortholog(s) of this gene implicated in metachromatic leukodystrophy. Orthologous to human ARSA (arylsulfatase A). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Broad expression in testis adult (RPKM 87.4), lung adult (RPKM 26.7) and 24 other tissues See more
Orthologs
human all
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Genomic context

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See Arsa in Genome Data Viewer
Location:
15 E3; 15 44.94 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (89356679..89361627, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (89472476..89477424, complement)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA C730034F03 gene Neighboring gene STARR-positive B cell enhancer ABC_E9159 Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene RIKEN cDNA C230037L18 gene Neighboring gene STARR-seq mESC enhancer starr_39466 Neighboring gene SH3 and multiple ankyrin repeat domains 3 Neighboring gene predicted gene 15609 Neighboring gene predicted gene, 36221

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. Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. Matzner U, et al. Gene Ther, 2000 May. PMID 10822308
  2. Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. Givogri MI, et al. J Neurosci, 2006 Mar 22. PMID 16554462, Free PMC Article
  3. Reduced brain cholesterol content in arylsulfatase A-deficient mice. Lütjohann D, et al. Biochem Biophys Res Commun, 2006 Jun 2. PMID 16630546
  4. Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. Eckhardt M, et al. J Neurosci, 2007 Aug 22. PMID 17715338, Free PMC Article
  5. Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. Ramakrishnan H, et al. J Neurosci, 2007 Aug 29. PMID 17728461, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deep proteomic profiling unveils arylsulfatase A as a non-alcoholic steatohepatitis inducible hepatokine and regulator of glycemic control.
    Title: Deep proteomic profiling unveils arylsulfatase A as a non-alcoholic steatohepatitis inducible hepatokine and regulator of glycemic control.
  2. Multipotential Neural precursors deficient in arylsulfatase A show a higher ratio of long versus short fatty acid sulfatides, reduction in PDGFRa, decreased AKT phosphorylation, and increased exosomal shedding of PDGFRa.
    Title: Dysfunction of platelet-derived growth factor receptor α (PDGFRα) represses the production of oligodendrocytes from arylsulfatase A-deficient multipotential neural precursor cells.
  3. distributed not only on the cell surfaces of endothelial cells and hepatocytes, but also on the collagen fibrils in the space of Disse
    Title: Novel structure of hepatic extracellular matrices containing arylsulfatase A.
  4. Sperm arylsulfatase A binds to mZP2 and mZP3 glycoproteins in a nonenzymatic manner.
    Title: Sperm arylsulfatase A binds to mZP2 and mZP3 glycoproteins in a nonenzymatic manner.
  5. Sulfogalactosylglycerolipid was a physiological substrate of Sertoli lysosomal arylsulfatase A
    Title: Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
  6. study provides the first proof of cognitive deficit and impaired synaptic plasticity in an MLD mouse model.
    Title: Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy.
  7. ArsA plays a role as a novel component of the extracellular matrix which could be very useful for clarifying the mechanisms underlying some of the syndromes caused by functional deficiency of the Ars genes.
    Title: Mammalian arylsulfatase A functions as a novel component of the extracellular matrix.
  8. Saposin B(Sap B) is not a limiting factor of the coupled Sap B-ASA reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels
    Title: Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
  9. Lysosomal AS-A may be involved in cell-surface remodeling during luteolysis by desulfating SGG after its endocytosis and targeting to the lysosome.
    Title: Presence of arylsulfatase A and sulfogalactosylglycerolipid in mouse ovaries: localization to the corpus luteum.
  10. Safety of Arsa overexpression for gene therapy of metachromatic leukodystrophy was evaluated.
    Title: Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

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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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 calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables cerebroside-sulfatase activity 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 autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in autophagy ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within binding of sperm to zona pellucida IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to estrogen IEA
Inferred from Electronic Annotation
more info
  
involved_in response to estrogen ISO
Inferred from Sequence Orthology
more info
  
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to ethanol ISO
Inferred from Sequence Orthology
more info
  
involved_in response to methylmercury IEA
Inferred from Electronic Annotation
more info
  
involved_in response to methylmercury ISO
Inferred from Sequence Orthology
more info
  
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nutrient ISO
Inferred from Sequence Orthology
more info
  
involved_in response to pH IEA
Inferred from Electronic Annotation
more info
  
involved_in response to pH ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in acrosomal vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular space HDA PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
  
located_in extrinsic component of external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extrinsic component of external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
arylsulfatase A
Names
cerebroside-sulfatase
NP_033843.2

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_009713.4 → NP_033843.2  arylsulfatase A precursor

    See identical proteins and their annotated locations for NP_033843.2

    Status: VALIDATED

    Source sequence(s)
    AC137513
    Consensus CDS
    CCDS27753.1
    UniProtKB/Swiss-Prot
    P50428, Q9DC66
    Related
    ENSMUSP00000127646.2, ENSMUST00000165199.8
    Conserved Domains (2) summary
    COG3119
    Location:16 → 440
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:19 → 502
    ALP_like; alkaline phosphatases and sulfatases

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_000081.7 Reference GRCm39 C57BL/6J

    Range
    89356679..89361627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50428.2 GenPept UniProtKB/Swiss-Prot:P50428

Gene LinkOut

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