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ARSE Gene

protein-coding   GIFtS: 64
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)
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Aliases
Arylsulfatase E (Chondrodysplasia Punctata 1)1 2     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tracheal stenosis, and chondrodysplasia punctata 1, x-linked. GO annotations related to this gene include arylsulfatase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ARSE
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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)
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: 

  • N-glycosylated1
  • 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)1
  • Glycosylation2 at Asn58, Asn125, Asn258, Asn344
  • Selected DME Specific Peptides for ARSE (P51690) (see all 5)
     NGIYKGG  HDPPLLFD  AFLTGRYP  WEGGIRVPG 


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

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

    ENSEMBL proteins: 
     ENSP00000370526   ENSP00000406528   ENSP00000438198   ENSP00000441417  
    Reactome Protein details: P51690

    ARSE Human Recombinant Protein Products:

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    Novus Biologicals ARSE Protein
    Novus Biologicals ARSE Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ARSE

    ARSE Antibody Products:

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    ARSE Assay Products:

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    Cloud-Clone Corp. CLIAs for ARSE


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

       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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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARSE

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ARSE (NM_000047)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSE

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    Browse ESI BIO Cell Lines and PureStem Progenitors for ARSE 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSE


    (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
    ARSE_HUMAN, P51690: Golgi apparatus, Golgi stack
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum4
    lysosome3
    plasma membrane3
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005795Golgi stack IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    ARSE 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 ARSE 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
    5Estrogen metabolism
    Estrogen metabolism0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ARSE
        Estrogen metabolism

    2 Reactome Pathways for ARSE
        Glycosphingolipid metabolism
    The activation of arylsulfatases



    ARSE for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for ARSE

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

    Selected 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): Selected biological process terms (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, 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 ARSE

    Selected 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)



    ARSE 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 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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSE
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ARSE
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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 

    Selected AceView cDNA sequences (see all 335):

    CK821513 CB163997 BM855048 AA494421 AI360999 AA359789 BX091647 N51378 
    BE646292 AW242285 C00526 BM675131 BF003050 BQ001174 CA436470 CA438823 
    CB215943 BF061581 BF593477 AA813758 R64678 AI097604 BM678192 BQ269749 

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

    ARSE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARSE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.386975

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

        Custom PCR Arrays for ARSE
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ARSE gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rat
    (Rattus norvegicus)
    Mammalia Arse1 arylsulfatase E 62.86(n)
    60.77(a)
      310326  NM_001047885.1  NP_001041350.1 
    chicken
    (Gallus gallus)
    Aves ARSH1 arylsulfatase family, member H 64.84(n)
    63.84(a)
      378798  NM_204372.1  NP_989703.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    many ↔ many
    3(114037137-114062932)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arsd1 arylsulfatase D 58.4(n)
    56.71(a)
      548706  NM_001015952.2  NP_001015952.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arsh6
    arylsulfatase H
    51(a)
    1 → many
    9(57794391-57813088) ENSDARG00000002299
    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)
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    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), 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 ARSE (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
    ----------
    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
    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--------
    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

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    (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: 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

  • Selected diseases for ARSE (see all 21):    About MalaCards
    tracheal stenosis    chondrodysplasia punctata 1, x-linked    chondrodysplasia punctata 1, x-linked recessive    chondrodysplasia punctata, x-linked recessive
    chondrodysplasia    mucosulfatidosis    gastric dilatation    mucopolysaccharidosis vi
    learning disability    metachromatic leukodystrophy    mucopolysaccharidosis    leukodystrophy
    ocular albinism    kallmann syndrome    dwarfism    short stature
    albinism    intellectual disability    tuberculosis    multiple myeloma

    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)
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    PubMed articles for ARSE gene, integrated from 10 sources (see all 31):
    (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. (Cell 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. (Am. J. Med. Genet. 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. (Am. J. Med. Genet. A 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. (Am. J. Hum. Genet. 1998)
    5. Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). (PubMed id 22021425)1, 4 Carty C.L....Kooperberg C. (Hum. Mol. Genet. 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. (PLoS Genet. 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. (Clin. Genet. 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. (Genomics 1997)
    9. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. (PubMed id 18348268)1, 9 Nino M....Braverman N. (Am. J. Med. Genet. A 2008)
    10. X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. (PubMed id 19839041)1, 9 Casarin A....Salviati L. (Am. J. Med. Genet. A 2009)

    (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)
    About This Section

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    Entrez Gene: 415 HGNC: 719 AceView: ARSEandARSD Ensembl:ENSG00000157399 euGenes: HUgn415
    ECgene: ARSE H-InvDB: ARSE

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ARSE Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARSE[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 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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