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

ARSE Gene

protein-coding   GIFtS: 65
GCID: GC0XM002846

Arylsulfatase E (Chondrodysplasia Punctata 1)


(Previous symbols: CDPX, CDPX1)
  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)
About This Section

Aliases
Arylsulfatase E (Chondrodysplasia Punctata 1)1     Arylsulfatase E2
CDPX11 2 5     EC 3.1.6.-3
CDPX1 2     EC 3.1.68
ASE2 3     EC 3.1.6.28
CDPXR2 5     

External Ids:    HGNC: 7191   Entrez Gene: 4152   Ensembl: ENSG000001573997   OMIM: 3001805   UniProtKB: P516903   

Export aliases for ARSE gene to outside databases

Previous GC identifers: GC0XM002158 GC0XM002022 GC0XM002382 GC0XM002447 GC0XM000795


(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 ARSE Gene:
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the
golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked
chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been
linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene
related to this gene is located on the Y chromosome. (provided by RefSeq, Sep 2013)

GeneCards Summary for ARSE Gene: 
ARSE (arylsulfatase E (chondrodysplasia punctata 1)) is a protein-coding gene. Diseases associated with ARSE include chondrodysplasia, and chondrodysplasia punctata 1, x-linked, and among its related super-pathways are Sphingolipid metabolism and The activation of arylsulfatases. GO annotations related to this gene include arylsulfatase activity and metal ion binding. An important paralog of this gene is ARSF.

UniProtKB/Swiss-Prot: ARSE_HUMAN, P51690
Function: May be essential for the correct composition of cartilage and bone matrix during development. Has no
activity toward steroid sulfates

Gene Wiki entry for ARSE (Arylsulfatase E) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ARSE
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARSE promoter sequence
   Search SABiosciences Chromatin IP Primers for ARSE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSE


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

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.33

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM002846:  view genomic region     (about GC identifiers)

Start:
2,852,673 bp from pter      End:
2,886,286 bp from pter
Size:
33,614 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARSE_HUMAN, P51690 (See protein sequence)
Recommended Name: Arylsulfatase E precursor  
Size: 589 amino acids; 65669 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subcellular location: Golgi apparatus, Golgi stack
Secondary accessions: Q53FT2 Q53FU8

Explore the universe of human proteins at neXtProt for ARSE: NX_P51690

Explore proteomics data for ARSE at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • UniProtKB: The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in
    prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51690

  • 4/5 DME Specific Peptides for ARSE (P51690) (see all 5)
     NGIYKGG  HDPPLLFD  AFLTGRYP  WEGGIRVPG 

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

    ARSE Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000038.2  NP_001269557.1  NP_001269560.1  

    ENSEMBL proteins: 
     ENSP00000370526   ENSP00000406528   ENSP00000438198   ENSP00000441417  
    Reactome Protein details: P51690
    Human Recombinant Protein Products for ARSE: 
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    Novus Biologicals ARSE Protein
    Novus Biologicals ARSE Lysate
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    Cloud-Clone Corp. Proteins for ARSE 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005795Golgi stack IEA--

    ARSE for ontologies           About GeneDecksing



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

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

    Graphical View of Domain Structure for InterPro Entry P51690

    ProtoNet protein and cluster: P51690

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSE_HUMAN, P51690
    Similarity: Belongs to the sulfatase family


    ARSE 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARSE_HUMAN, P51690
    Function: May be essential for the correct composition of cartilage and bone matrix during development. Has no
    activity toward steroid sulfates
    Enzyme regulation: Inhibited by millimolar concentrations of warfarin
    Biophysicochemical properties: pH dependence: Optimum pH is 7; Temperature dependence: Almost completely
    inactivated after 10 minutes at 50 degrees Celsius;

         Genatlas biochemistry entry for ARSE:
    arylsulfatase E,X-linked,68kDa,escaping inactivation,highly homologous to ARSC1 with two alternatively spliced
    isoforms,heat labile,inhibited by warfarin

         Enzyme Numbers (IUBMB): EC 3.1.6.-1 EC 3.1.6.22 EC 3.1.62

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity TAS9192838
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0046872metal ion binding IEA--
         
    ARSE for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARSE 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARSE 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARSE 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARSE About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    2PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation0.46
    The activation of arylsulfatases0.46
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    5Estrogen metabolism
    Estrogen metabolism0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ARSE
        Estrogen metabolism

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



    ARSE for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/17 Interacting proteins for ARSE (P516902, 3 ENSP000003705264) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDNQ996082, 3, ENSP000003326434MINT-64340 I2D: score=5 STRING: ENSP00000332643
    TNK2Q079122, 3, ENSP000003713414MINT-64704 I2D: score=3 STRING: ENSP00000371341
    COQ6Q9Y2Z93, ENSP000003339464I2D: score=4 STRING: ENSP00000333946
    TMEM259Q4ZIN33, ENSP000003490874I2D: score=3 STRING: ENSP00000349087
    ARSAENSP000002161244STRING: ENSP00000216124
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS7720070
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0043687post-translational protein modification TAS--

    ARSE for ontologies           About GeneDecksing



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

    ARSE for compounds           About GeneDecksing

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

    Browse Tocris compounds for ARSE

    10/13 HMDB Compounds for ARSE (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    CalciumCa (see all 2)7440-70-2--
    Estrone(+)-Estrone (see all 7)53-16-7--
    Estrone sulfateConestoral (see all 12)481-97-0--
    Galactosylceramide (d18:1/16:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:1(9Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/20:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/22:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/24:1(15Z))Galactocerebroside (see all 15)----

    1 Novoseek inferred chemical compound relationship for ARSE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    steroid 29.9 6 16470742 (1), 9192838 (1), 14636323 (1), 11260213 (1)

    Search CenterWatch for drugs/clinical trials and news about ARSE

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARSE gene (3 alternative transcripts): 
    NM_000047.2  NM_001282628.1  NM_001282631.1  

    Unigene Cluster for ARSE:

    Arylsulfatase E (chondrodysplasia punctata 1)
    Hs.386975  [show with all ESTs]
    Unigene Representative Sequence: NM_000047
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381134 ENST00000438544 ENST00000483425 ENST00000496095 ENST00000540563(uc011mhi.2)
    ENST00000545496(uc004crc.4 uc011mhh.2)
    miRNA
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    Additional mRNA sequence: 

    AK223183.1 AK223199.1 AK293648.1 AK301004.1 AK313093.1 BC130438.1 X83573.1 

    9 DOTS entries:

    DT.209332  DT.102829358  DT.100638218  DT.121292020  DT.121292018  DT.91689186  DT.102829360  DT.40115447 
    DT.91689173 

    24/335 AceView cDNA sequences (see all 335):

    CA438823 X83573 N51378 CB163997 BF061581 AU105235 CK821513 AU099657 
    AA359789 AI810868 AA341100 AA987660 CB215943 BX091647 AI360999 NM_000047 
    BF003050 H45944 AA494421 AI678947 AU099315 AI474656 BF593400 AI683233 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ARSE    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:              -           -                                                                     
    SP2:                          -                                                                     
    SP3:              -           -     -                                                               
    SP4:              -                                                                                 


    ECgene alternative splicing isoforms for ARSE

    (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

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


    ARSE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)

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

    SOURCE GeneReport for Unigene cluster: Hs.386975

    UniProtKB/Swiss-Prot: ARSE_HUMAN, P51690
    Tissue specificity: Expressed in the pancreas, liver and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARSE gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rat
    (Rattus norvegicus)
    Mammalia Arse1 arylsulfatase E (chondrodysplasia punctata 1) 62.32(n)
    60.73(a)
      310326  NM_001047885.1  NP_001041350.1 
    chicken
    (Gallus gallus)
    Aves ARSH6
    ARSD6
    (see all 3)
    Uncharacterized protein
    (see all 3)
    62(a)
    62(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    1(127805905-127818492)
    1(127828157-127842611)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    59(a)
    58(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    3(114037137-114062932)
    3(113939525-113989677)
    zebrafish
    (Danio rerio)
    Actinopterygii arsh6
    arylsulfatase H
    52(a)
    1 → many
    9(57794391-57813088)
    worm
    (Caenorhabditis elegans)
    Secernentea D1014.13 arylsulfatase 48(a)   V(8160224-8161279)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARSE gene
    ARSF2  ARSI2  ARSJ2  ARSG2  ARSA2  STS2  ARSH2  ARSB2  
    GALNS2  ARSD2  
    6 SIMAP similar genes for ARSE using alignment to 5 protein entries:     ARSE_HUMAN (see all proteins):
    ARSH    ARSD    ARSF    STS    ARSJ    IDS

    ARSE for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ARSE
    PGOHUM00000233954


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/706 SNPs in ARSE are shown (see all 706)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0073124
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0073122 C Y mis40--------
    VAR_0073114
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0073112 G R mis40--------
    VAR_0073094
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0073092 G R mis40--------
    VAR_0073104
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0073102 G V mis40--------
    VAR_0073084
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0073082 R P mis40--------
    VAR_0235704
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0235702 I N mis40--------
    VAR_0073074
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0073072 R S mis40--------
    VAR_0235714
    Chondrodysplasia punctata 1, X-linked recessive (CDPX1)4--see VAR_0235712 T M mis40--------
    rs289354741,2,4
    CChondrodysplasia punctata 1, X-linked recessive (CDPX1)4 pathogenic12826269(-) CGTTCC/TCCCTC 2 P S mis1 trp31Minor allele frequency- T:0.00NA 2
    rs803387141,2
    Cpathogenic12826258(-) TGCTGA/GTGCCT 2 * W stg10--------

    HapMap Linkage Disequilibrium report for ARSE (2852673 - 2886286 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ARSE:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv34985CNV Gain17911159
    essv3621CNV CNV17122850
    dgv2432e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): ARSE

    Locus Specific Mutation Databases (LSDB): ARSE
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ARSE
    DNA2.0 Custom Variant and Variant Library Synthesis for ARSE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300180   
    OMIM disorders: 302950  
    UniProtKB/Swiss-Prot: ARSE_HUMAN, P51690
  • Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]: A clinically and genetically
    heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of
    bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal
    cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug
    warfarin. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for ARSE:    About MalaCards
    chondrodysplasia    chondrodysplasia punctata 1, x-linked    chondrodysplasia punctata 1, x-linked recessive    chondrodysplasia punctata, x-linked recessive
    tracheal stenosis    gastric dilatation    mucopolysaccharidosis vi    learning disability
    metachromatic leukodystrophy    mucopolysaccharidosis    leukodystrophy    short stature
    ocular albinism    kallmann syndrome    dwarfism    albinism
    intellectual disability    ichthyosis    tuberculosis

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

    ARSE for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for ARSE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondrodysplasia punctata 96 23 11260213 (3), 19839041 (2), 15309625 (1), 16470742 (1) (see all 11)
    short stature 60.7 2 11260213 (1)
    congenital disorders 57.6 2 12567415 (1)

    GeneTests: ARSE
    GeneReviews: ARSE
    Genetic Association Database (GAD): ARSE

    Export disorders for ARSE 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)
    About This Section

    PubMed articles for ARSE gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with ARSE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. (PubMed id 7720070)1, 2, 3 Franco B.... Ballabio A. (1995)
    2. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. (PubMed id 9409863)1, 2, 9 Parenti G.... Andria G. (1997)
    3. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. (PubMed id 12567415)1, 2, 9 Brunetti-Pierri N.... Parenti G. (2003)
    4. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. (PubMed id 9497243)1, 2, 9 Daniele A.... Meroni G. (1998)
    5. Genome-wide association study of body height in Africa n Americans: the Women's Health Initiative SNP Health Association Resource (SHAR e). (PubMed id 22021425)1, 4 Carty C.L....Kooperberg C. (2012)
    6. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (2011)
    7. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. (PubMed id 11260213)1, 9 Seidel J....Rappold G.A. (2001)
    8. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. (PubMed id 9192838)1, 9 Puca A.A.... Franco B. (1997)
    9. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. (PubMed id 18348268)1, 9 Nino M....Braverman N. (2008)
    10. X-linked brachytelephalangic chondrodysplasia punctat a: a simple trait that is not so simple. (PubMed id 19839041)1, 9 Casarin A....Salviati L. (2009)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 415 HGNC: 719 AceView: ARSEandARSD Ensembl:ENSG00000157399 euGenes: HUgn415
    ECgene: ARSE H-InvDB: ARSE

    (According to HUGE)
    About This Section
      --

    (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 ARSE Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARSE

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

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



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