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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARSA Gene

protein-coding   GIFtS: 68
GCID: GC22M051063

Arylsulfatase A
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Aliases
for ARSA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for ARSA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 metachromatic leukodystrophy, and nervous system cancer, and among its related super-pathways are Sphingolipid metabolism and The activation of arylsulfatases. 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


Genomic Views
for ARSA 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011526.7  
Regulatory elements:
   SABiosciences 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 plasmid: ARSA promoter sequence
   Search SABiosciences Chromatin IP Primers for ARSA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ARSA gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Lysosome
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;
6/9 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:

  • UniProtKB: 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)
  • View neXtProt modification sites for NX_P15289

    • 2 DME Specific Peptides for ARSA (P15289)
     GKYKAHF  PSRAALLTGRLP 

    ARSA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000348406   ENSP00000216124   ENSP00000378983   ENSP00000412542   ENSP00000378981  
     ENSP00000448440   ENSP00000448932  
    Reactome Protein details: P15289
    Human Recombinant Protein Products for ARSA: 
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    OriGene Purified Protein for ARSA
    OriGene Protein Over-expression Lysate for ARSA
    OriGene MassSpec for ARSA 
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    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 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARSA 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS2562955
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0043202lysosomal lumen TAS--

    ARSA for ontologies           About GeneDecksing



    ARSA Antibody Products: 
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    Assay Products for ARSA: 
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    Cloud-Clone Corp. ELISAs for ARSA 
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    Protein Domains /
    Families
    for ARSA gene

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

    4 InterPro protein domains:
     IPR000917 Sulfatase
     IPR017849 Alkaline_Pase-like_a/b/a
     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


    Function
    for ARSA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity TAS2562955
    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:
         Mouse knock-out Arsatm1Gie for ARSA
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARSA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARSA

    miRNA
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    8/9 QIAGEN miScript miRNA 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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    Sirion Biotech Custom design and validation of potent shRNA sequences against ARSA

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for ARSA gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARSA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    		Sphingolipid metabolism0.63
    		Glycosphingolipid metabolism0.55
    		Sphingolipid metabolism0.63
    2PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    		PTM: gamma carboxylation, hypusine formation and arylsulfatase activation0.46
    		The activation of arylsulfatases0.46
    3Metabolism
    		Metabolism0.40
    		Metabolism of lipids and lipoproteins0.34
    4Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.35
    5Lysosome
    		Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/8        Reactome Pathways for ARSA (see all 8)
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    Metabolism of proteins


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


    ARSA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARSA

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

    5/26 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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0007339binding of sperm to zona pellucida IEA--
    GO:0008152metabolic process ----
    GO:0043687post-translational protein modification TAS--

    ARSA for ontologies           About GeneDecksing



    Drugs & Compounds
    for ARSA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARSA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARSA

    10/11 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----

    10/42 Novoseek inferred chemical compound relationships for ARSA gene (see all 42)    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)

    Search CenterWatch for drugs/clinical trials and news about ARSA

    Transcripts
    for ARSA gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ARSA gene (5 alternative transcripts): 
    NM_000487.5  NM_001085425.2  NM_001085426.2  NM_001085427.2  NM_001085428.2  

    Unigene Clusters for ARSA:

    Arylsulfatase A
    Hs.88251  [show with all ESTs], Hs.731715  [show with all ESTs]
    Unigene Representative Sequences: NM_000487, AK310564
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)
    ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)
    ENST00000547307 ENST00000547805

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    Additional mRNA sequence: 

    AK301098.1 AK310564.1 

    17 DOTS entries:

    DT.453952  DT.100731419  DT.100877746  DT.100877744  DT.95337986  DT.65287834  DT.100699710  DT.100877740 
    DT.100028446  DT.95337982  DT.100644967  DT.95337987  DT.100877741  DT.120644762  DT.40230542  DT.91745500 
    DT.97844860 

    24/228 AceView cDNA sequences (see all 228):

    BX337658 BC014210 BX365605 BU618020 BQ927461 BI905793 CR599839 CB120047 
    BM763358 CB306644 NM_000487 CR614235 BM818814 CB125745 BM818658 AI366066 
    BI906735 CR590422 CB124424 CA423492 BQ669212 BM547797 R96096 BU632246 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for ARSA gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Reproductive System (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes
     
     Breast
             breast ; myoepithelial cells

    See ARSA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARSA

    SOURCE GeneReport for Unigene clusters: Hs.88251 Hs.731715
        SABiosciences Custom PCR Arrays for ARSA
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    Orthologs
    for ARSA gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ARSA gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Arsa1 , 5 arylsulfatase A1, 5 83.27(n)1
    86.95(a)1    		   15 (44.94 cM)5
    118831  NM_009713.41  NP_033843.21 
     894724765 
    chicken
    (Gallus gallus)    		 Aves ARSA1 arylsulfatase A 66.67(n)
    65.19(a)    		   426863  XM_424471.3  XP_424471.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 67(a)
    64(a)
    		 1 ↔ many
    1 ↔ many
    		 GL343765.1(209941-216295)
    GL344984.1(10017-16548)
    zebrafish
    (Danio rerio)    		 Actinopterygii arsa1 arylsulfatase A 59.06(n)
    57.64(a)    		   541416  NM_001013543.1  NP_001013561.1 
    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
    for ARSA gene

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

    ARSA for paralogs           About GeneDecksing



    Genomic Variants
    for ARSA gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/464 SNPs in ARSA are shown (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
    ----------
    VAR_0542034
    		Leukodystrophy metachromatic (MLD)4--see VAR_0542032 T I mis40--------
    VAR_0072494
    		Leukodystrophy metachromatic (MLD)4--see VAR_0072492 S L mis40--------
    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--------

    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
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    Disorders / Diseases
    for ARSA gene

    (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.)
    About This Section
    ARSA for disorders           About GeneDecksing

    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

    20/51 diseases for ARSA (see all 51):    About MalaCards
    metachromatic leukodystrophy    nervous system cancer    central nervous system cancer    sneddon syndrome
    fabry disease    gangliosidosis gm1    sandhoff disease    krabbe disease
    wilson disease    choroideremia    tay-sachs disease    leukodystrophy
    gaucher's disease    gangliosidosis    essential tremor    pervasive developmental disorder
    lysosomal storage disease    dysostosis    tremor    mucolipidosis

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

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

    10/37 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
    Arylsulfatase A Deficiency

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

    Export disorders for ARSA gene to outside databases

    Publications
    for ARSA gene

    (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)
    About This Section

    PubMed articles for ARSA gene, integrated from 9 sources (see all 332):
    (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. (2004)
    2. Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. (PubMed id 12788103)1, 2, 9 Marcao A.... Sa Miranda M.C. (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. (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. (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. (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. (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. (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. (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. (2005)
    10. The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (PubMed id 9744473)1, 2, 9 Ricketts M.H.... Manowitz P. (1998)

    External Searches for ARSA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ARSA gene

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

    Other Databases showing ARSA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ARSA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARSA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARSA
    NIEHS-SNPshttp://egp.gs.washington.edu/data/arsa/
    Wikipedia http://en.wikipedia.org/wiki/Arylsulfatase_A

    Intellectual Property
    for ARSA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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