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ARSI Gene

protein-coding   GIFtS: 54
GCID: GC05M149657

Arylsulfatase Family, Member I

(Previous name: arylsulfatase I)
  See related diseases
at  

(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 Family, Member I1 2     EC 3.1.6.-3
Arylsulfatase I1 2     EC 3.1.68
ASI2 3     EC 3.1.6.128
SPG662     

External Ids:    HGNC: 325211   Entrez Gene: 3400752   Ensembl: ENSG000001838767   OMIM: 6100095   UniProtKB: Q5FYB13   

Export aliases for ARSI gene to outside databases

Previous GC identifer: GC05M144823


(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 ARSI Gene:
Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates,
proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and
degradation of macromolecules (Sardiello et al., 2005 (PubMed 16174644)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ARSI Gene:
ARSI (arylsulfatase family, member I) is a protein-coding gene. Diseases associated with ARSI include louse-borne relapsing fever, and xerophthalmia. GO annotations related to this gene include arylsulfatase activity. An important paralog of this gene is ARSF.

UniProtKB/Swiss-Prot: ARSI_HUMAN, Q5FYB1
Function: Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is
measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts




(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  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARSI gene promoter:
         HOXA9B   HOXA9   Pax-5   Nkx2-5   Tal-1beta   Meis-1b   ITF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARSI promoter sequence
   Search Chromatin IP Primers for ARSI

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


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

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M149657:  view genomic region     (about GC identifiers)

Start:
149,675,906 bp from pter      End:
149,718,870 bp from pter
Size:
42,965 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: ARSI_HUMAN, Q5FYB1 (See protein sequence)
Recommended Name: Arylsulfatase I precursor  
Size: 569 amino acids; 64030 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Caution: According to PubMed:16500042, has no arylsulfatase activity
Secondary accessions: A1L3B0 B3KV22 B7XD03
Alternative splicing: 2 isoforms:  Q5FYB1-1   Q5FYB1-2   

Explore the universe of human proteins at neXtProt for ARSI: NX_Q5FYB1

Explore proteomics data for ARSI at MOPED

Post-translational modifications: 

  • The oxidation of Cys-93 residue to 3-oxoalanine (also known as C(alpha)-formylglycine) by
    SUMF1/Sulfatase-modifying factor 1, seems critical for catalytic activity1
  • Glycosylation2 at Asn276, Asn288, Asn466, Asn496
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ARSI (Q5FYB1) (see all 11)
     DVGYHGS  QPNCLPLD  KGTYWEGG  PTRRGFDT 


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

    REFSEQ proteins: NP_001012301.1  
    ENSEMBL proteins: 
     ENSP00000333395   ENSP00000426879   ENSP00000420955  
    Reactome Protein details: Q5FYB1

    ARSI Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ARSI
    OriGene Custom MassSpec
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    Novus Biologicals ARSI Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARSI

    ARSI Antibody Products:

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

    ARSI Assay Products:

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    Cloud-Clone Corp. ELISAs for ARSI
    Cloud-Clone Corp. CLIAs for ARSI


    (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 Q5FYB1

    ProtoNet protein and cluster: Q5FYB1

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSI_HUMAN, Q5FYB1
    Similarity: Belongs to the sulfatase family


    ARSI 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: ARSI_HUMAN, Q5FYB1
    Function: Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is
    measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts

         Enzyme Numbers (IUBMB): EC 3.1.6.-1 EC 3.1.6.122 EC 3.1.62

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity TAS16174644
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0046872metal ion binding IEA--
         
    ARSI for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARSI:
     Decreased Salmonella enterica   Decreased Salmonella enterica  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Arsi):
     hematopoietic system 

    ARSI for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arsitm1Anjm for ARSI

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARSI:
    hsa-mir-335-5p (MIRT017749)

    Block miRNA regulation of human, mouse, rat ARSI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSI (see all 10):
    hsa-miR-4283 hsa-miR-4324 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-4268 hsa-miR-125b hsa-miR-3622b-3p hsa-miR-1286
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARSI

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

    Clone
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    OriGene clones in human, mouse for ARSI (see all 7)
    OriGene ORF clones in mouse, rat for ARSI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARSI (NM_001012301)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSI

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ARSI
    Browse ESI BIO Cell Lines and PureStem Progenitors for ARSI 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSI


    (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
    ARSI_HUMAN, Q5FYB1: Secreted. Endoplasmic reticulum. Note=Localized in the intracellular granular structures
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    lysosome3
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005788endoplasmic reticulum lumen TAS--

    ARSI 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 ARSI About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for ARSI
        Glycosphingolipid metabolism
    The activation of arylsulfatases



    ARSI for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for ARSI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ARSI (ENSP000003333954) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARSAENSP000002161244STRING: ENSP00000216124
    ARSBENSP000002649144STRING: ENSP00000264914
    ARSDENSP000003705464STRING: ENSP00000370546
    ARSEENSP000003705264STRING: ENSP00000370526
    ARSFENSP000003523194STRING: ENSP00000352319
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    ARSI 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 ARSI

    1 HMDB Compound for ARSI    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 ARSI gene: 
    NM_001012301.2  

    Unigene Cluster for ARSI:

    Arylsulfatase family, member I
    Hs.591252  [show with all ESTs]
    Unigene Representative Sequence: NM_001012301
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328668(uc003lrv.2) ENST00000515301 ENST00000509146
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ARSI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSI (see all 10):
    hsa-miR-4283 hsa-miR-4324 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-4268 hsa-miR-125b hsa-miR-3622b-3p hsa-miR-1286
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARSI
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    OriGene ORF clones in mouse, rat for ARSI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARSI (NM_001012301)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSI
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ARSI
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARSI
      QuantiTect SYBR Green Assays in human, mouse, rat ARSI
      QuantiFast Probe-based Assays in human, mouse, rat ARSI

    Additional mRNA sequence: 

    AB448735.1 AK122641.1 AY875937.1 BC111002.1 BC129995.1 BC129996.1 

    1 DOTS entry:

    DT.309933 

    Selected AceView cDNA sequences (see all 28):

    AI445977 BM693832 BM670894 CR621346 BM705410 CA417016 CD673311 BU845825 
    CA428531 BU741038 BU734778 BU681900 AI420538 BM674324 AI187269 BM704986 
    BX358614 AA358883 AA622043 AI376957 AK122641 AA428117 AA622154 AA234540 

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


    ARSI expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Growth Plate
     
     Cartilage (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
    ARSI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARSI Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591252

    UniProtKB/Swiss-Prot: ARSI_HUMAN, Q5FYB1
    Tissue specificity: Expressed in placenta, in embryonic stem cells, fetal eyes and lens

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSI

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

    Orthologs for ARSI gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arsi1 , 5 arylsulfatase i1, 5 87.87(n)1
    95.96(a)1
      18 (34.41 cM)5
    5452601  NM_001038499.11  NP_001033588.11 
     609117805 
    chicken
    (Gallus gallus)
    Aves ARSI1 arylsulfatase family, member I 78.93(n)
    84.15(a)
      427639  XM_004944946.1  XP_004945003.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARSI6
    arylsulfatase family, member I
    76(a)
    1 ↔ 1
    2(139028674-139036258)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arsi1 arylsulfatase family, member I 69.36(n)
    79.96(a)
      100487216  XM_002940086.2  XP_002940132.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5637831 arylsulfatase I-like 65.58(n)
    69.67(a)
      563783  XM_687145.5  XP_692237.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG321911 CG32191 47.36(n)
    38.55(a)
      317903  NM_168750.4  NP_730304.2 
    worm
    (Caenorhabditis elegans)
    Secernentea sul-36
    Protein SUL-3, isoform b (sul-3) mRNA, complete cd...
    34(a)
    1 → many
    X(7827085-7834535) WBGene00006310


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARSI gene
    ARSF2  ARSJ2  ARSG2  ARSA2  STS2  ARSH2  ARSB2  GALNS2  
    ARSE2  ARSD2  
    3 SIMAP similar genes for ARSI using alignment to 2 protein entries:     ARSI_HUMAN (see all proteins):
    ARSJ    ARSB    IDS

    ARSI 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 ARSI (see all 230)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1128460821,2
    C--149675563(+) GGCGCG/ACTAGG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs728059211,2
    C--149675783(+) CCACCG/TCCTAG 1 -- int16Minor allele frequency- T:0.13CSA WA NA EA 362
    rs1452545621,2
    --149675880(+) GCTCAC/TAGTCA 1 -- int10--------
    rs1449870901,2
    C--149675962(+) CCAGTC/TTTCCA 1 -- ut310--------
    rs728059221,2
    C--149675998(+) GGGCTG/AGCATC 1 -- ut315Minor allele frequency- A:0.13CSA WA NA EA 361
    rs1394991111,2
    C--149676259(+) GTCAA-/CCCCCC 1 -- ut310--------
    rs623826741,2
    C,F--149676293(+) CGCTTG/AGGGGT 1 -- ut313Minor allele frequency- A:0.06NA EA 242
    rs171111181,2
    C,F,H--149676297(+) TGGGGG/TTCCCT 1 -- ut3118Minor allele frequency- T:0.10NA NS EA CSA WA 2171
    rs1163674371,2
    C,F--149676363(+) CCAGGC/GAACTC 1 -- ut311Minor allele frequency- G:0.04WA 118
    rs1486460531,2
    C--149676463(+) CCAGGA/CTCCAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ARSI (149675906 - 149718870 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ARSI: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARSI
    DNA2.0 Custom Variant and Variant Library Synthesis for ARSI

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610009    OMIM disorders: --

    8 diseases for ARSI:    
    About MalaCards
    louse-borne relapsing fever    xerophthalmia    relapsing fever    mucopolysaccharidosis
    gingivitis    tuberculosis    malaria    retinitis

    2 diseases from the University of Copenhagen DISEASES database for ARSI:
    Xerophthalmia     Relapsing fever

    ARSI for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARSI

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

    1. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PubMed id 16174644)1, 2, 3 Sardiello M.... Ballabio A. (Hum. Mol. Genet. 2005)
    2. Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. (PubMed id 19262745)1, 2, 9 Oshikawa M.... Kato S. (Mol. Vis. 2009)
    3. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)1, 3 Novarino G....Gleeson J.G. (Science 2014)
    4. Molecular cloning and initial characterization of three novel human sulfatases. (PubMed id 16500042)1, 2 Obaya A.J. (Gene 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Expression patterns of sulfatase genes in the developing mouse embryo. (PubMed id 20503373)9 Ratzka A....Vortkamp A. (Dev. Dyn. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 340075 HGNC: 32521 AceView: LOC340075 Ensembl:ENSG00000183876 euGenes: HUgn340075
    ECgene: ARSI H-InvDB: ARSI

    (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 ARSI Pharmacogenomics, SNPs, Pathways

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

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



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