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ARSB Gene

protein-coding   GIFtS: 67
GCID: GC05M078108

Arylsulfatase B

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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 B1 2
ASB2 3
G4S2 3
N-acetylgalactosamine-4-sulfatase2 3
EC 3.1.6.123 8
MPS62 5

External Ids:    HGNC: 7141   Entrez Gene: 4112   Ensembl: ENSG000001132737   OMIM: 6115425   UniProtKB: P158483   

Export aliases for ARSB gene to outside databases

Previous GC identifers: GC05M076881 GC05M078312 GC05M078114 GC05M078159 GC05M078158 GC05M073279


(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 ARSB Gene:
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes
sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted
to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting
from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms
have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARSB Gene:
ARSB (arylsulfatase B) is a protein-coding gene. Diseases associated with ARSB include mucopolysaccharidosis vi, and mucopolysaccharidosis type 6, rapidly progressing. GO annotations related to this gene include N-acetylgalactosamine-4-sulfatase activity and arylsulfatase activity. An important paralog of this gene is ARSF.




(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_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARSB gene promoter:
         POU2F1   POU2F1a   Hand1   YY1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARSB promoter sequence
   Search Chromatin IP Primers for ARSB

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


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

Entrez Gene cytogenetic band: 5q14.1   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q14.1

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M078108:  view genomic region     (about GC identifiers)

Start:
78,073,032 bp from pter      End:
78,282,357 bp from pter
Size:
209,326 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: ARSB_HUMAN, P15848 (See protein sequence)
Recommended Name: Arylsulfatase B precursor  
Size: 533 amino acids; 59687 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Monomer
1 PDB 3D structure from and Proteopedia for ARSB:
1FSU (3D)    
Secondary accessions: B2RC20 Q8N322 Q9UDI9
Alternative splicing: 2 isoforms:  P15848-1   P15848-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARSB: NX_P15848

Explore proteomics data for ARSB 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 Asn188, Asn279, Asn291, Asn366, Asn426, Asn458
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ARSB (P15848) (see all 5)
     GLWNNTV  PTRRGFDT  THMVGKWHLG  CVPLDEKLLPQLLK 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000037.2  NP_942002.1  

    ENSEMBL proteins: 
     ENSP00000264914   ENSP00000379455   ENSP00000456339   ENSP00000428611  
    Reactome Protein details: P15848

    ARSB Human Recombinant Protein Products:

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    ARSB Antibody Products:

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    Cloud-Clone Corp. CLIAs for ARSB


    (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 P15848

    ProtoNet protein and cluster: P15848

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSB_HUMAN, P15848
    Similarity: Belongs to the sulfatase family


    ARSB 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: ARSB_HUMAN, P15848
    Catalytic activity: Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of
    chondroitin sulfate and dermatan sulfate

         Genatlas biochemistry entry for ARSB:
    arylsulfatase B,lysosomal,acting on dermatan sulfate,catalyzing the third step of degradation of
    glucosaminoglycans (mucopolysaccharides)

         Enzyme Number (IUBMB): EC 3.1.6.121 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003943N-acetylgalactosamine-4-sulfatase activity TAS--
    GO:0004065arylsulfatase activity IEA--
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0046872metal ion binding IEA--
         
    ARSB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ARSB:
     Decreased Hepatitis C virus re 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arsb) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  limbs/digits/tail 
     muscle  nervous system  renal/urinary system  reproductive system  respiratory system 

    ARSB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arsbtm1Cptr for ARSB

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

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARSB

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARSB:
    hsa-mir-941 (MIRT036564), hsa-mir-122-5p (MIRT023384), hsa-mir-224-5p (MIRT046570)

    Block miRNA regulation of human, mouse, rat ARSB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSB (see all 29):
    hsa-miR-345 hsa-miR-4288 hsa-miR-323b-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-4305 hsa-miR-346
    SwitchGear 3'UTR luciferase reporter plasmidARSB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ARSB
    Predesigned siRNA for gene silencing in human, mouse, rat ARSB

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ARSB

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ARSB (NM_000046)
    Sino Biological Human cDNA Clone for ARSB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSB

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


    (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
    ARSB_HUMAN, P15848: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum4
    golgi apparatus2
    mitochondrion2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome TAS2303452
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    ARSB 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 ARSB About   (see all 9)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    4Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    CS/DS degradation0.00
    5PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    The activation of arylsulfatases0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ARSB
        Glycosphingolipid metabolism
    The activation of arylsulfatases
    CS/DS degradation


    3 Kegg Pathways  (Kegg details for ARSB):
        Glycosaminoglycan degradation
    Metabolic pathways
    Lysosome


    ARSB for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for ARSB

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

    Selected Interacting proteins for ARSB (P158483 ENSP000002649144) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    SLC2A4P146723I2D: score=1 
    ARSAENSP000002161244STRING: ENSP00000216124
    ARSDENSP000003705464STRING: ENSP00000370546
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006914autophagy IEA--
    GO:0007040lysosome organization TAS1718978

    ARSB 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 ARSB

    6 HMDB Compounds for ARSB    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChondroitinChondroitin-D-glucuronate (see all 5)9007-27-6--
    Chondroitin sulfateChondritinsulfate (see all 12)9007-28-7--
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for ARSB gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-acetylgalactosamine 4-sulfate 91.2 9 17324393 (2), 19306108 (1), 1427856 (1)
    formylglycine 83.3 2 9506842 (1), 10212197 (1)
    dermatan sulfate 82.8 27 18486607 (2), 20385007 (2), 8755662 (1), 20152898 (1) (see all 14)
    glycosaminoglycan 70.2 18 8755662 (2), 9045867 (1), 10593925 (1), 15895715 (1) (see all 7)
    mucopolysaccharide 69.9 1 18486607 (1)
    dermatan 69.1 2 17458871 (1), 8298306 (1)
    cerebroside 66.3 4 10082381 (1), 17064891 (1)
    mannose 6-phosphate 60.3 4 8755662 (1), 10501192 (1), 2303452 (1), 9657868 (1)
    chondroitin sulfate 54.5 7 15000815 (1), 17458871 (1), 19682969 (1), 20385007 (1)
    sulfate 38.7 3 12796199 (1), 8298306 (1)



    ARSB 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 ARSB gene (2 alternative transcripts): 
    NM_000046.3  NM_198709.2  

    Unigene Cluster for ARSB:

    Arylsulfatase B
    Hs.149103  [show with all ESTs]
    Unigene Representative Sequence: NM_000046
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264914(uc003kfq.3) ENST00000521011 ENST00000396151(uc003kfr.4)
    ENST00000565165 ENST00000521800 ENST00000521117

    miRNA
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    Block miRNA regulation of human, mouse, rat ARSB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSB (see all 29):
    hsa-miR-345 hsa-miR-4288 hsa-miR-323b-3p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-4305 hsa-miR-346
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      QuantiTect SYBR Green Assays in human, mouse, rat ARSB
      QuantiFast Probe-based Assays in human, mouse, rat ARSB

    Additional mRNA sequence: 

    AK026942.1 AK290865.1 AK314903.1 BC029051.1 BC036609.2 J05225.1 M32373.1 

    9 DOTS entries:

    DT.309846  DT.95365578  DT.40120992  DT.95194502  DT.65285558  DT.70100552  DT.100670489  DT.92420472 
    DT.95249238 

    Selected AceView cDNA sequences (see all 105):

    AL135624 CR590324 F11194 BX090880 AU103620 BF058213 NM_000046 AW082281 
    AL135237 BU146945 NM_198709 CR604870 AI830464 J05225 AI279717 BG189739 
    AI332747 AA128825 BX354190 AL598325 BM664932 CB528373 BX337160 F08862 

    GeneLoc Exon Structure


    (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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    ARSB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGCCTCA
    ARSB Expression
    About this image


    ARSB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Zeugopod Long Bone
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Pelvic Girdle
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ARSB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARSB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149103
        Custom PCR Arrays for ARSB
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    OriGene qPCR primer pairs and template standards for ARSB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSB

    (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 and fungi.

    Orthologs for ARSB gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arsb1 , 5 arylsulfatase B1, 5 80.04(n)1
    78.72(a)1
      13 (47.88 cM)5
    118811  NM_009712.31  NP_033842.31 
     937716795 
    chicken
    (Gallus gallus)
    Aves ARSB1 arylsulfatase B 75.57(n)
    78.34(a)
      771459  XM_003642912.2  XP_003642960.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARSB6
    arylsulfatase B
    73(a)
    1 ↔ 1
    2(13053330-13147479)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arsb1 arylsulfatase B 68.99(n)
    74.8(a)
      100493013  XM_002940198.2  XP_002940244.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005380071 arylsulfatase B-like 66.67(n)
    73.24(a)
      100538007  XM_003200800.2  XP_003200848.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG86463
    CG74021
    N-acetylgalactosamine-4-sulfatase3
    CG74021
    41(a)
    (best of 3)3
    46.1(n)1
    40.12(a)1
      399941  NM_140766.31  NP_649023.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sul-36
    Protein SUL-3, isoform b (sul-3) mRNA, complete cd...
    33(a)
    1 → many
    X(7827085-7834535) WBGene00006310
    K. lactis yeast
    (Kluyveromyces lactis)
    Saccharomycetes KLLA0F03146g1 KLLA0F03146g 42.74(n)
    33.97(a)
      2895710  XM_455222.1  XP_455222.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARSB gene
    ARSF2  ARSI2  ARSJ2  ARSG2  ARSA2  STS2  ARSH2  GALNS2  
    ARSE2  ARSD2  
    3 SIMAP similar genes for ARSB using alignment to 2 protein entries:     ARSB_HUMAN (see all proteins):
    ARSI    ARSJ    IDS

    ARSB 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 ARSB (see all 4592)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011013431,2,,4
    CMucopolysaccharidosis 6 (MPS6)4 --78369587(+) ATGTCC/TTTCTT 2 R G mis10--------
    rs254141,2,,4
    C,F,HMucopolysaccharidosis 6 (MPS6)4 --78428555(+) ATGGGC/TTTCCT 4 N S mis117Minor allele frequency- T:0.04NA NS EA EU 7760
    VAR_0190334
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0190332 C Y mis40--------
    VAR_0190204
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0190202 M I mis40--------
    VAR_0190214
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0190212 G R mis40--------
    VAR_0072994
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0072992 R Q mis40--------
    VAR_0190314
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0190312 F L mis40--------
    VAR_0190254
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0190252 C R mis40--------
    VAR_0190194
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0190192 P H mis40--------
    VAR_0073024
    Mucopolysaccharidosis 6 (MPS6)4--see VAR_0073022 G R mis40--------

    HapMap Linkage Disequilibrium report for ARSB (78073032 - 78282357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARSB (see all 34):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv991971CNV Deletion20482838
    esv995273CNV Deletion20482838
    esv2730347CNV Deletion23290073
    esv2028237CNV Deletion18987734
    esv2522674CNV Deletion19546169
    esv2657232CNV Deletion23128226
    esv2730346CNV Deletion23290073
    esv2676226CNV Deletion23128226
    esv2677370CNV Deletion23128226
    esv2133112CNV Deletion18987734

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

    (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: 611542   
    OMIM disorders: 253200  
    UniProtKB/Swiss-Prot: ARSB_HUMAN, P15848
  • Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: An autosomal recessive lysosomal storage disease
    characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth,
    short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac
    abnormalities. A wide variation in clinical severity is observed. 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 B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations
    result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to
    3-oxoalanine

  • Selected diseases for ARSB (see all 32):    
    About MalaCards
    mucopolysaccharidosis vi    mucopolysaccharidosis type 6, rapidly progressing    mucopolysaccharidosis type 6, slowly progressing    meleda disease
    mucopolysaccharidosis    mucosulfatidosis    papilledema    metachromatic leukodystrophy
    leukodystrophy    lysosomal storage disease    hydrocephalus    mucopolysaccharidoses
    chondrodysplasia    morquio syndrome b    sly syndrome    cystic fibrosis
    short stature    spinal cord injury    pulmonary function    blindness

    3 diseases from the University of Copenhagen DISEASES database for ARSB:
    Mucopolysaccharidosis     Metachromatic leukodystrophy     Mucosulfatidosis

    ARSB for disorders           About GeneDecksing


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

    8 Novoseek inferred disease relationships for ARSB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    maroteaux-lamy syndrome 98.9 134 1687673 (3), 15930196 (2), 8541342 (2), 11668612 (2) (see all 53)
    multiple sulfatase deficiency 88.7 2 2303452 (1), 1687673 (1)
    mucopolysaccharidosis 84.6 8 8575749 (1), 16128602 (1), 10098600 (1), 11322427 (1) (see all 5)
    lysosomal storage diseases 82.9 18 1904721 (1), 12904606 (1), 15930196 (1), 18502162 (1) (see all 12)
    leukodystrophy metachromatic 65.2 3 1687673 (2), 10713632 (1)
    enzyme deficiency 47.5 1 11322427 (1)
    allergic reaction 28.1 1 1886031 (1)
    cystic fibrosis 3.14 3 20152898 (1), 12796199 (1), 17324393 (1)

    Genetic Association Database (GAD): ARSB
    Human Genome Epidemiology (HuGE) Navigator: ARSB (6 documents)

    Export disorders for ARSB 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 ARSB gene, integrated from 10 sources (see all 159):
    (articles sorted by number of sources associating them with ARSB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. (PubMed id 2303452)1, 2, 3, 9 Peters C.... von Figura K. (J. Biol. Chem. 1990)
    2. N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI. (PubMed id 8541342)1, 2, 9 Simonaro C.M. and Schuchman E.H. (Biochim. Biophys. Acta 1995)
    3. Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. (PubMed id 1550123)1, 2, 9 Jin W.-D.... Schuchman E.H. (Am. J. Hum. Genet. 1992)
    4. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full- length cDNA, and regions of amino acid identity with arylsulfatases A and C. (PubMed id 1968043)1, 2, 9 Schuchman E.H.... Desnick R.J. (Genomics 1990)
    5. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. (PubMed id 14974081)1, 2, 9 Karageorgos L.... Hopwood J.J. (Hum. Mutat. 2004)
    6. Components and proteolytic processing sites of arylsulfatase B from human placenta. (PubMed id 1390929)1, 2, 9 Kobayashi T.... Makita A. (Biochim. Biophys. Acta 1992)
    7. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. (PubMed id 8116615)1, 2, 9 Isbrandt D....Peters C. (Am. J. Hum. Genet. 1994)
    8. Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (PubMed id 8125475)1, 2, 9 Voskoboeva E....Peters C. (Hum. Genet. 1994)
    9. Identification, expression, and biochemical characterization of N- acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS6 patients. (PubMed id 8651289)1, 2, 9 Litjens T.... Hopwood J.J. (Am. J. Hum. Genet. 1996)
    10. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. (PubMed id 1718978)1, 2, 9 Wicker G.... Peters C. (J. Biol. Chem. 1991)

    (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: 411 HGNC: 714 AceView: ARSB Ensembl:ENSG00000113273 euGenes: HUgn411
    ECgene: ARSB Kegg: 411 H-InvDB: ARSB

    (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 ARSB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARSB[genesymbol]

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

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



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