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

ARSB Gene

protein-coding   GIFtS: 64
GCID: GC05M078108

arylsulfatase B
 Explore 22 diseases affiliated with
ARSB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ARSB    

Aliases
for ARSB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Arylsulfatase B1 2
ASB2 3
G4S2 3
N-Acetylgalactosamine-4-Sulfatase1
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


Summaries
for ARSB 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 ARSB:
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)




Genomic Views
for ARSB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ARSB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ARSB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Lysosome
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15848

    • 4/5 DME Specific Peptides for ARSB (P15848) (see all 5)
     GLWNNTV  PTRRGFDT  THMVGKWHLG  CVPLDEKLLPQLLK 

    ARSB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000264914   ENSP00000379455   ENSP00000456339   ENSP00000428611  
    Reactome Protein details: P15848
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ARSB (Arylsulfatase B/ARSB)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins (see all 2): ARSB
    OriGene Protein Over-expression Lysate (see all 2): ARSB
    OriGene Custom Protein Services for ARSB 
    GenScript Custom Purified and Recombinant Proteins Services for ARSB
    Novus Biologicals ARSB Protein
    Novus Biologicals ARSB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ARSB

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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



    ARSB Antibody Products: 
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    Uscn ELISAs and CLIAs for ARSB

    Protein Domains /
    Families
    for ARSB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ARSB for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P15848

    ProtoNet protein and cluster: P15848

    1 Blocks protein family: IPB000917 Sulfatase

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


    Function
    for ARSB gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ARSB
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARSB
    8/29 QIAGEN miScript miRNA 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 plasmid: ARSB 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARSB (see all 6)
    OriGene siRNA: ARSB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSB

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ARSB

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSB (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ARSB (NM_000046)
    Browse Sino Biological Human cDNA Clones
    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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    Search LifeMap BioReagents cell lines for ARSB

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

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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


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

    Animal Models:
         Mouse knock-out Arsbtm1Cptr for ARSB
         15/17 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Arsb) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size  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


    Pathways & Interactions
    for ARSB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    		MPS VI - Maroteaux-Lamy syndrome1.00
    		MPS VII - Sly syndrome1.00
    		MPS IIIC - Sanfilippo syndrome C1.00
    		MPS IIIA - Sanfilippo syndrome A1.00
    		MPS I - Hurler syndrome1.00
    		MPS IIID - Sanfilippo syndrome D1.00
    		Mucopolysaccharidoses1.00
    		MPS IX - Natowicz syndrome1.00
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Glycosphingolipid metabolism0.54
    4PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    		PTM: gamma carboxylation, hypusine formation and arylsulfatase activation1.00
    		The activation of arylsulfatases0.46
    5Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/25        Reactome Pathways for ARSB (see all 25)
        Sphingolipid metabolism
    Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease


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


    ARSB for pathways           About GeneDecksing

    Interactions:

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

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

    5/29 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): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006914autophagy IEA--


    ARSB for ontologies           About GeneDecksing



    Drugs & Compounds
    for ARSB gene

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

    ARSB for compounds           About GeneDecksing

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

    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--
    10/17 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ARSB 

    Transcripts
    for ARSB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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 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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    8/29 QIAGEN miScript miRNA 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 plasmid: ARSB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARSB (see all 6)
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    Clone
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    Primer
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    Additional cDNA 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 

    24/105 AceView cDNA sequences (see all 105):

    AL135624 CR590324 AW082281 AI279717 NM_198709 J05225 AI830464 CR604870 
    AI332747 BF058213 NM_000046 BX090880 AU103620 F11194 BG189739 BX354190 
    AA128825 BU146945 AL135237 BX337160 F08862 BG218304 AI869278 BM664932 

    GeneLoc Exon Structure


    Expression
    for ARSB 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

    ARSB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGGCCTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ARSB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneStylopod Long BoneBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.149103
        SABiosciences Custom PCR Arrays for ARSB
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSB

    Orthologs
    for ARSB 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 and fungi.

    Orthologs for ARSB gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ARSB1 arylsulfatase B 75.37(n)
    78.09(a)    		   771459  XM_003642912.1  XP_003642960.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ARSB6
    		 --
    		 71(a)
    		 1 ↔ 1
    		 2(13053711-13144416)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005380071 arylsulfatase B-like 66.67(n)
    73.24(a)    		   100538007  XM_003200800.1  XP_003200848.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG86463
    CG74021    		 N-acetylgalactosamine-4-sulfatase3
    CG74021    		 41(a)
    (best of 3)3
    45.98(n)1
    39.53(a)1    		   399941  NM_140766.31  NP_649023.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea sul-36
    		 SULfatase domain protein family member (sul-3)
    		 28(a)
    		 possible ortholog
    		 X(7827034-7834484)
    K. lactis yeast
    (Kluyveromyces lactis)    		 Saccharomycetes KLLA0F03146g1 hypothetical protein 42.91(n)
    34.06(a)    		   2895710  XM_455222.1  XP_455222.1 


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

    Paralogs
    for ARSB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARSB gene
    ARSF2  ARSJ2  ARSI2  ARSG2  ARSA2  ARSH2  STS2  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



    Genomic Variants
    for ARSB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3813 NCBI SNPs in ARSB are shown (see all 3813)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1182039441,2
    		C,Fpathogenic73342176(-) GCTGCA/CTAATA 4 H P mis12Minor allele frequency- C:0.00NA EU 5873
    rs1182039431,2
    		Cpathogenic73466901(-) TATGTA/GTTCAA 4 Y C mis11Minor allele frequency- G:0.00NA 4542
    rs168758871,2
    		C,F,H,--73279826(+) AATGAT/CTGACA 1 -- ds500122Minor allele frequency- C:0.08NA NS EA WA 2452
    rs117507741,2
    		C,F,H,--73279840(+) TTTTTA/CGTTCT 1 -- ut3113Minor allele frequency- C:0.07NS EA NA 1992
    rs756621681,2
    		--73280200(+) TGCCGG/AGCACA 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs133543241,2
    		C,H,--73280613(+) AGTACT/CTGTTT 1 -- ut313Minor allele frequency- C:0.00EA NS 284
    rs1130599351,2
    		C,--73281008(+) TGCTAC/TTGAAT 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs1130202591,2
    		--73281050(+) ATTATG/TTGTTG 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs355977821,2
    		C,F,--73281386(+) TCATGC/TCTGTA 1 -- ut314Minor allele frequency- T:0.03NA 126
    rs791661901,2
    		F,--73281601(+) TGTACC/TACTGT 1 -- ut311Minor allele frequency- T:0.02EA 120

    HapMap Linkage Disequilibrium report for ARSB (78073032 - 78282357 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 22 variations for ARSB
         5 CNVs: 93102 99180 7504 93101 64236
         15/17 Indels (see all 17): 64237 11258 93103 62390 12704 62389 42576 51741 40772 80960 11259 46923 80959 46924 28008
    Human Gene Mutation Database (HGMD): ARSB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARSB
    DNA2.0 Custom Variant and Variant Library Synthesis for ARSB

    Disorders / Diseases
    for ARSB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ARSB for disorders           About GeneDecksing

    OMIM gene information: 611542   
    OMIM disorders: 253200  
    UniProtKB/Swiss-Prot: ARSB_HUMAN, P15848
  • Defects in ARSB are the cause of mucopolysaccharidosis type 6 (MPS6) [MIM:253200]; also known as
    • Maroteaux-Lamy syndrome. MPS6 is 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
  • Arylsulfatase B activity is defective in 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=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

    20/22 diseases for ARSB (see all 22):    About MalaCards
    mucopolysaccharidosis type vi (maroteaux-lamy)    mucopolysaccharidosis    lysosomal storage disease    mucopolysaccharidosis vi
    corneal clouding    metachromatic leukodystrophy    craniofacial abnormalities    chondrodysplasia punctata
    leukodystrophy    short stature    papilledema    cystic fibrosis
    chondrodysplasia    pulmonary function    ichthyosis    fibrosis
    alzheimer's disease    blindness    breast cancer    retinitis

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

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ARSB (6 documents)

    Export disorders for ARSB gene to outside databases

    Publications
    for ARSB 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 ARSB gene, integrated from 9 sources (see all 150):
    (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. (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. (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. (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. (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. (2004)
    6. Components and proteolytic processing sites of arylsulfatase B from human placenta. (PubMed id 1390929)1, 2, 9 Kobayashi T.... Makita A. (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. (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. (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. (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. (1991)

    External Searches for ARSB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing ARSB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 411 HGNC: 714 AceView: ARSB Ensembl:ENSG00000113273 euGenes: HUgn411
    ECgene: ARSB Kegg: 411 H-InvDB: ARSB

    Other Databases showing ARSB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ARSB 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 ARSB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARSB

    Intellectual Property
    for ARSB gene

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

    GeneCards and IP:
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