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ARSA Gene

protein-coding   GIFtS: 70
GCID: GC22M051063

Arylsulfatase A

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arylsulfatase A1 2     cerebroside-sulfatase2
ASA2 3     Cerebroside-sulfatase3
Metachromatic Leucodystrophy1     EC 3.1.6.83
MLD2     EC 3.1.68

External Ids:    HGNC: 7131   Entrez Gene: 4102   Ensembl: ENSG000001002997   OMIM: 6075745   UniProtKB: P152893   

Export aliases for ARSA gene to outside databases

Previous GC identifers: GC22M047567 GC22M049195 GC22M049353 GC22M049410 GC22M033953


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARSA Gene:
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene
lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of
neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for
this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for ARSA Gene:
ARSA (arylsulfatase A) is a protein-coding gene. Diseases associated with ARSA include cerebral lipidosis, and nervous system cancer. GO annotations related to this gene include sulfuric ester hydrolase activity and calcium ion binding. An important paralog of this gene is ARSF.

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
Function: Hydrolyzes cerebroside sulfate

Gene Wiki entry for ARSA (Arylsulfatase A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011526.8  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARSA gene promoter:
         GR   ER-alpha   AML1a   RelA   Nkx2-5   E4BP4   NF-kappaB   COMP1   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARSA promoter sequence
   Search Chromatin IP Primers for ARSA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARSA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

ARSA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARSA gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M051063:  view genomic region     (about GC identifiers)

Start:
51,061,182 bp from pter      End:
51,066,607 bp from pter
Size:
5,426 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289 (See protein sequence)
Recommended Name: Arylsulfatase A precursor  
Size: 507 amino acids; 53588 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component
A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts
with SUMF1
Miscellaneous: The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant
protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit
Sequence caution: Sequence=AAB03341.1; Type=Erroneous initiation; Sequence=BAH11167.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for ARSA (see all 9):
1AUK (3D)        1E1Z (3D)        1E2S (3D)        1E33 (3D)        1E3C (3D)        1N2K (3D)    
Secondary accessions: B2RCA6 B7XD04 F8WCC8 Q6ICI5 Q96CJ0
Alternative splicing: 2 isoforms:  P15289-1   P15289-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARSA: NX_P15289

Explore proteomics data for ARSA at MOPED

Post-translational modifications: 

  • 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. This post-translational
    modification is severely defective in multiple sulfatase deficiency (MSD)1
  • Glycosylation2 at Asn158, Asn184, Asn350
  • 2 DME Specific Peptides for ARSA (P15289)
     GKYKAHF  PSRAALLTGRLP 


    See ARSA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000478.3  NP_001078894.2  NP_001078895.2  NP_001078896.2  NP_001078897.1  

    ENSEMBL proteins: 
     ENSP00000477013   ENSP00000348406   ENSP00000216124   ENSP00000378983   ENSP00000412542  
     ENSP00000378981   ENSP00000448440   ENSP00000448932  
    Reactome Protein details: P15289

    ARSA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ARSA
    OriGene MassSpec for ARSA
    OriGene Custom Protein Services for ARSA
    GenScript Custom Purified and Recombinant Proteins Services for ARSA
    Novus Biologicals ARSA Proteins
    Novus Biologicals ARSA Lysates
    Sino Biological Recombinant Protein for ARSA
    Sino Biological Cell Lysate for ARSA
    ProSpec Recombinant Protein for ARSA
    Cloud-Clone Corp. Proteins for ARSA

    ARSA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ARSA
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    LSBio Antibodies in human, mouse, rat for ARSA

    ARSA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ARSA
    Cloud-Clone Corp. CLIAs for ARSA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARS: Arylsulfatase family

    4 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR000917 Sulfatase
     IPR024607 Sulfatase_CS
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry P15289

    ProtoNet protein and cluster: P15289

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
    Similarity: Belongs to the sulfatase family


    ARSA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARSA_HUMAN, P15289
    Function: Hydrolyzes cerebroside sulfate
    Catalytic activity: A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate
    Enzyme regulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine

         Genatlas biochemistry entry for ARSA:
    arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids

         Enzyme Numbers (IUBMB): EC 3.1.6.81 EC 3.1.62

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity IEA--
    GO:0004098cerebroside-sulfatase activity TAS--
    GO:0005509calcium ion binding IDA12888274
    GO:0008484sulfuric ester hydrolase activity IDA15962010
         
    ARSA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARSA:
     Cell cycle / mitosis defect  Decreased viability of wild-ty 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Arsa):
     behavior/neurological  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system 

    ARSA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arsatm1Gie for ARSA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARSA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARSA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARSA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARSA

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARSA:
    hsa-mir-335-5p (MIRT018147)

    Block miRNA regulation of human, mouse, rat ARSA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSA (see all 9):
    hsa-miR-374b* hsa-miR-485-5p hsa-miR-892b hsa-miR-3918 hsa-miR-619 hsa-miR-646 hsa-miR-221* hsa-miR-24
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARSA

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ARSA
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    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
    Sino Biological Human cDNA Clone for ARSA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARSA_HUMAN, P15289: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum4
    cytosol2
    endosome2
    golgi apparatus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome TAS2562955
    GO:0005768endosome IEA--

    ARSA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARSA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    The activation of arylsulfatases0.00
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for ARSA
        Glycosphingolipid metabolism
    The activation of arylsulfatases


    2 Kegg Pathways  (Kegg details for ARSA):
        Sphingolipid metabolism
    Lysosome


    ARSA for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARSA
    Interactions:

        Search GeneGlobe Interaction Network for ARSA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARSA (P152893 ENSP000002161244) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    CTSLP077113, ENSP000003453444I2D: score=1 STRING: ENSP00000345344
    TRIP13Q156453I2D: score=1 
    ARSBENSP000002649144STRING: ENSP00000264914
    ARSDENSP000003705464STRING: ENSP00000370546
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006914autophagy IEA--
    GO:0007339binding of sperm to zona pellucida IEA--
    GO:0007417central nervous system development IEA--

    ARSA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARSA

    Selected HMDB Compounds for ARSA (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    Galactosylceramide (d18:1/16:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:1(9Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/20:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/22:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/24:1(15Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/26:1(17Z))Galactocerebroside (see all 15)----
    MagnesiumMagnesium (see all 2)7439-95-4--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--

    4 DrugBank Compounds for ARSA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Micafungin-- 235114-32-6enzymesubstrate15882123 17516879
    N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium-- --target--10592235
    SuraminBayer 205 (see all 6)145-63-1enzymeinhibitor7291729
    2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid-- --target----
    enzyme----

    42 Novoseek inferred chemical compound relationships for ARSA gene (see top 10)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfatide 95.1 72 1359786 (6), 10894127 (3), 15322834 (2), 17204333 (2) (see all 37)
    formylglycine 90.1 3 10212197 (1), 9497327 (1), 9760228 (1)
    p-nitrocatechol sulfate 89.9 14 10464659 (2), 1687673 (2), 16613739 (2), 11870284 (1) (see all 7)
    cerebroside 77.4 9 10082381 (1), 11746679 (1), 1687673 (1), 15275696 (1) (see all 6)
    n-acetylgalactosamine 6-sulfate 72.1 2 1755850 (1), 1875023 (1)
    mannose 6-phosphate 70.3 12 12296771 (3), 1352293 (1), 8106525 (1), 15709909 (1) (see all 7)
    sulf 66.4 5 16311251 (2), 17093507 (2)
    galactosylceramide 65.7 3 9024105 (1), 18097285 (1)
    mucopolysaccharide 40.9 3 9336808 (2), 11315200 (1)
    mannose 35.5 3 1352293 (1), 7890120 (1), 9202426 (1)
    udp-n-acetylglucosamine 34.8 2 9920914 (1), 12783870 (1)
    glycosphingolipid 32 1 7913898 (1)
    ganglioside 29.4 4 1348043 (1), 2320574 (1), 1889421 (1), 8099782 (1)
    sulfate 27 5 1350885 (1), 11124905 (1), 10775412 (1)
    estrone 26.9 3 16399355 (1), 18288656 (1), 17558559 (1)
    heparan sulfate 26.7 2 16011900 (1)
    cysteine 24.1 9 8897113 (1), 11777924 (1), 12503099 (1), 11124905 (1) (see all 6)
    steroid 22 21 9336808 (2), 7927195 (2), 17064891 (2), 1348358 (1) (see all 14)
    polysaccharide 21.9 12 7890120 (3), 1359879 (2), 10814696 (1), 8730213 (1) (see all 6)
    asparagine 19.6 2 11551215 (2)
    orthophosphate 15.3 1 8106525 (1)
    serine 14.3 10 1674719 (1), 7906588 (1), 11124905 (1), 7902317 (1) (see all 6)
    leucine 12.7 1 7858169 (1)
    proline 11.8 3 7858169 (1), 8707308 (1)
    ceramide 8.35 2 1889421 (1), 19895791 (1)
    polyacrylamide 6.2 3 7890120 (1), 8730213 (1), 1354240 (1)
    lipid 5.71 7 12518053 (1), 1359786 (1), 15193296 (1), 9728336 (1) (see all 5)
    n-acetylglucosamine 0.605 2 7890120 (1), 1359879 (1)
    aspartate 0.372 2 11485269 (1), 11257325 (1)
    lead 0 11 10894127 (4), 11516520 (3)
    oligonucleotide 0 2 1572648 (1)
    glycosaminoglycan 0 2 7584110 (1), 8677802 (1)
    acetic acid 0 2 11516520 (1)
    tyrosine 0 3 16712511 (2), 7906588 (1)
    dhea 0 2 16399355 (1), 17558559 (1)
    hydrogen 0 2 10212197 (1), 19381802 (1)
    methionine 0 2 7902710 (1), 11045609 (1)
    alanine 0 3 7906588 (1), 11257325 (1), 9760228 (1)
    lactate 0 1 11485269 (1)
    creatinine 0 1 17458576 (1)
    valine 0 1 7906588 (1)
    glutamine 0 1 1353340 (1)



    ARSA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARSA gene (5 alternative transcripts): 
    NM_000487.5  NM_001085425.2  NM_001085426.2  NM_001085427.2  NM_001085428.2  

    Unigene Cluster for ARSA:

    Arylsulfatase A
    Hs.88251  [show with all ESTs]
    Unigene Representative Sequence: NM_000487
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000610191 ENST00000608497 ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)
    ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)
    ENST00000547307 ENST00000547805

    miRNA
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    Block miRNA regulation of human, mouse, rat ARSA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSA (see all 9):
    hsa-miR-374b* hsa-miR-485-5p hsa-miR-892b hsa-miR-3918 hsa-miR-619 hsa-miR-646 hsa-miR-221* hsa-miR-24
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ARSA
    Predesigned siRNA for gene silencing in human, mouse, rat ARSA
    Clone
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    OriGene clones in human, mouse for ARSA (see all 29)
    OriGene ORF clones in mouse, rat for ARSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA
    Primer
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    OriGene qPCR primer pairs and template standards for ARSA
    OriGene qSTAR qPCR primer pairs in human, mouse for ARSA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARSA
      QuantiTect SYBR Green Assays in human, mouse, rat ARSA
      QuantiFast Probe-based Assays in human, mouse, rat ARSA

    Additional mRNA sequence: 

    AB448736.1 AK092752.1 AK098659.1 AK315011.1 BC014210.2 BX648618.1 CR456383.1 X52151.1 

    15 DOTS entries:

    DT.100877746  DT.453952  DT.100731419  DT.65287834  DT.95337986  DT.100028446  DT.100644967  DT.100877740 
    DT.100877741  DT.100877744  DT.120644762  DT.40230542  DT.91745500  DT.95337982  DT.97844860 

    Selected AceView cDNA sequences (see all 228):

    CR607373 C01652 BP367614 BG035223 CB124424 CR598173 CB126238 AI459538 
    BX365605 BQ184813 BQ917626 CB151533 CR590422 BM763358 CB306644 BM547797 
    BU632246 CR600807 R96096 CA423492 T28370 BQ109579 CB125745 BE465784 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARSA (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9
    SP1:                                                                                                  -                                       
    SP2:                                                                                      -           -                                       
    SP3:                    -     -           -     -     -     -     -     -     -                       -                                       
    SP4:                                                                    -     -     -                 -                                       
    SP5:                          -                                                                                                               


    ECgene alternative splicing isoforms for ARSA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARSA expression in normal human tissues (normalized intensities)      ARSA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCTGGCG
    ARSA Expression
    About this image


    ARSA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ARSA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARSA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.88251
        Custom PCR Arrays for ARSA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ARSA gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arsa1 , 5 arylsulfatase A1, 5 83.68(n)1
    87.6(a)1
      15 (44.94 cM)5
    118831  NM_009713.41  NP_033843.21 
     894724765 
    chicken
    (Gallus gallus)
    Aves ARSA1 arylsulfatase A 67.43(n)
    66.32(a)
      426863  XM_424471.4  XP_424471.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARSA6
    arylsulfatase A
    67(a)
    1 ↔ 1
    GL343765.1(209941-216295)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arsa1 arylsulfatase A 58.75(n)
    57.71(a)
      100486429  XM_002938291.2  XP_002938337.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arsa1 arylsulfatase A 59.82(n)
    58.28(a)
      541416  NM_001013543.2  NP_001013561.2 
    worm
    (Caenorhabditis elegans)
    Secernentea D1014.13 arylsulfatase 36(a)   V(8160224-8161279)   --


    ENSEMBL Gene Tree for ARSA (if available)
    TreeFam Gene Tree for ARSA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARSA gene
    ARSF2  ARSI2  ARSJ2  ARSG2  STS2  ARSH2  ARSB2  GALNS2  
    ARSE2  ARSD2  
    3 SIMAP similar genes for ARSA using alignment to 2 protein entries:     ARSA_HUMAN (see all proteins):
    DKFZp686G12235    GALNS    ARSG

    ARSA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARSA (see all 464)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289408931,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006735(-) GCCCCC/TGCTGC 10 P L mis1 ese31Minor allele frequency- T:0.00NA 3842
    rs743154851,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006739(-) ATGAGA/CCCCCG 10 T P mis10--------
    rs743154811,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006786(-) TACCAC/TTGCAG 10 T I mis10--------
    rs289408951,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006789(-) TGATAC/TCACTG 10 T I mis1 ese30--------
    rs1994763911,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135006957(-) TGTGCG/AGACTG 10 /Q /R mis11Minor allele frequency- A:0.00EU 1315
    rs743154801,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006958(-) CTGTGC/TGGACT 10 R W mis10--------
    rs1994763701,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135006976(-) AGGTCC/TGTGGG 10 R C mis10--------
    rs743154791,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006982(-) CAGACA/GAGGTC 10 K E mis10--------
    rs61514251,2,,4
    C,F,HLeukodystrophy metachromatic (MLD)4 untested135006983(-) CCAGAC/G/TGAGGT 10 D E mis1 ese322NS NA EU 8383
    rs743154781,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006996(-) CTACCA/C/TGTCCT 10 P L mis11NA 4486

    HapMap Linkage Disequilibrium report for ARSA (51061182 - 51066607 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ARSA:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5069n71CNV Loss21882294
    nsv915495CNV Loss21882294
    dgv5068n71CNV Loss21882294
    nsv914543CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294
    dgv5067n71CNV Loss21882294
    nsv914542CNV Loss21882294
    nsv519694CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): ARSA
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ARSA
    DNA2.0 Custom Variant and Variant Library Synthesis for ARSA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607574   
    OMIM disorders: 250100  
    UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
  • Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect.
    Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse
    loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological
    symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis.
    Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and
    adult. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder
    caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and
    activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy,
    mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and
    developmental delay. Note=The protein represented in this entry is involved in disease pathogenesis.
    Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations
    result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to
    3-oxoalanine

  • Selected diseases for ARSA (see all 59):    About MalaCards
    cerebral lipidosis    nervous system cancer    metachromatic leukodystrophy    central nervous system cancer
    metachromatic leukodystrophy, late infantile form    metachromatic leukodystrophy, adult form    metachromatic leukodystrophy, juvenile form    fabry disease
    sneddon syndrome    gangliosidosis gm1    sandhoff disease    wilson disease
    mucosulfatidosis    krabbe disease    tay-sachs disease    choroideremia
    leukodystrophy    gangliosidosis    pervasive developmental disorder    essential tremor

    6 diseases from the University of Copenhagen DISEASES database for ARSA:
    Metachromatic leukodystrophy     Mucosulfatidosis     Mucopolysaccharidosis     Krabbe disease
    Mucolipidosis     Cerebral lipidosis

    ARSA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ARSA gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukodystrophy metachromatic 99 308 1687673 (4), 1670590 (3), 12427515 (3), 1357970 (3) (see all 99)
    leukodystrophy metachromatic late infantile 95.6 8 8723680 (1), 14571263 (1), 9272717 (1), 9888390 (1) (see all 6)
    leukodystrophy metachromatic adult 93.3 2 7710377 (2)
    multiple sulfatase deficiency 90.5 6 9336808 (2), 12809637 (1), 15446395 (1), 1687673 (1)
    leukodystrophy metachromatic juvenile 89.2 3 8707308 (1), 1684088 (1)
    lysosomal storage diseases 87.2 43 1348043 (1), 7860068 (1), 8542433 (1), 9090526 (1) (see all 27)
    demyelination 75 16 7904733 (2), 7866401 (1), 10822308 (1), 15322834 (1) (see all 11)
    sphingolipidoses 67.3 1 18360747 (1)
    krabbe disease 64.2 4 7755846 (1), 10713632 (1), 15275696 (1)
    enzyme deficiency 59.1 4 18797988 (1), 17980709 (1), 1968615 (1)

    GeneTests: ARSA
    GeneReviews: ARSA
    Genetic Association Database (GAD): ARSA
    Human Genome Epidemiology (HuGE) Navigator: ARSA (5 documents)

    Export disorders for ARSA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ARSA gene, integrated from 10 sources (see all 334):
    (articles sorted by number of sources associating them with ARSA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. (PubMed id 15026521)1, 2, 4 Gallo S.... Pandolfo M. (J. Neurol. Neurosurg. Psych. 2004)
    2. Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. (PubMed id 12788103)1, 2, 9 Marcao A.... Sa Miranda M.C. (Biochem. Biophys. Res. Commun. 2003)
    3. High residual arylsulfatase A (ARSA) activity in a patient with late- infantile metachromatic leukodystrophy. (PubMed id 8101038)1, 2, 9 Kreysing J.... Gieselmann V. (Am. J. Hum. Genet. 1993)
    4. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (PubMed id 18693274)1, 2, 9 Grossi S....Filocamo M. (Hum. Mutat. 2008)
    5. Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. (PubMed id 12459318)1, 4, 9 Bognar S.K....Demarin V. (Arch. Med. Res. 2002)
    6. Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. (PubMed id 11124905)1, 2, 9 von Buelow R.... Uson I. (J. Mol. Biol. 2001)
    7. Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. (PubMed id 9888390)1, 2, 9 Berger J.... Bernheimer H. (Hum. Mutat. 1999)
    8. An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (PubMed id 8104633)1, 2, 9 Harvey J.S.... Morris C.P. (Hum. Mutat. 1993)
    9. Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (PubMed id 15710861)1, 2, 9 Marcao A.M.... Gieselmann V. (Arch. Neurol. 2005)
    10. The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (PubMed id 9744473)1, 2, 9 Ricketts M.H.... Manowitz P. (Hum. Mutat. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 410 HGNC: 713 AceView: ARSA Ensembl:ENSG00000100299 euGenes: HUgn410
    ECgene: ARSA Kegg: 410 H-InvDB: ARSA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARSA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARSA[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/arsa/
    Wikipedia http://en.wikipedia.org/wiki/Arylsulfatase_A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARSA gene:
    Search GeneIP for patents involving ARSA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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