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

ARSE Gene

protein-coding   GIFtS: 63
GCID: GC0XM002846

arylsulfatase E (chondrodysplasia punctata 1)


(Previous symbols: CDPX, CDPX1)
 Explore 24 diseases affiliated with
ARSE via
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Biological research products
for ARSE    

Aliases
for ARSE gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Arylsulfatase E (Chondrodysplasia Punctata 1)1 2     Arylsulfatase E2
CDPX11 2 5     Chondrodysplasia Punctata 12
CDPX1 2     EC 3.1.6.-3
ASE2 3     EC 3.1.68
CDPXR2 5     EC 3.1.6.28

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


Summaries
for ARSE 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 ARSE:
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. (provided by RefSeq, Jul 2008)

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)


Genomic Views
for ARSE 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_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ARSE
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ARSE 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

Proteins
for ARSE 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: 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

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
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000038.2  
    ENSEMBL proteins: 
     ENSP00000370526   ENSP00000406528   ENSP00000438198   ENSP00000441417  
    Reactome Protein details: P51690
    Human Recombinant Protein Products: 
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    Novus Biologicals ARSE Protein
    Novus Biologicals ARSE Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for ARSE

    Protein Domains /
    Families
    for ARSE gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ARSE 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 P51690

    ProtoNet protein and cluster: P51690

    1 Blocks protein family: IPB000917 Sulfatase

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


    Function
    for ARSE 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARSE
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ARSE
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARSE
    OriGene shRNA RFP: ARSE
    OriGene siRNA: ARSE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSE

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSE 

    Cell Line
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    Search LifeMap BioReagents cell lines for ARSE

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

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004065arylsulfatase activity TAS9192838
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0046872metal ion binding IEA--


    ARSE for ontologies           About GeneDecksing



    Pathways & Interactions
    for ARSE 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Glycosphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    		PTM: gamma carboxylation, hypusine formation and arylsulfatase activation1.00
    		The activation of arylsulfatases0.46
    4Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.15
    5Estrogen metabolism
    		Estrogen metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0043687post-translational protein modification TAS--


    ARSE for ontologies           About GeneDecksing



    Drugs & Compounds
    for ARSE 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

    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 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 

    Transcripts
    for ARSE 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 ARSE gene: 
    NM_000047.2  

    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARSE
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARSE
    OriGene shRNA RFP: ARSE
    OriGene siRNA: ARSE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSE
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ARSE (NM_000047)
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    Primer
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    Additional cDNA 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):

    BQ001174 AW960743 BF593477 X83573 AI801393 AI679510 BF593400 AI240893 
    AI299724 AI738924 AW779826 BM979028 BF197551 AU099657 AI678947 AI014412 
    BQ269749 NM_000047 N52322 AU099315 AI128344 C00526 AI810868 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

    Expression
    for ARSE 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

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

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

    ARSE expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for ARSE
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    In Situ
    Assay Products:     
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    Orthologs
    for ARSE 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 last universal common ancestor (LUCA).

    Orthologs for ARSE gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ARSE6
    		 Uncharacterized protein
    		 53(a)
    		 possible ortholog
    		 1(132589880-132598984)
    lizard
    (Anolis carolinensis)    		 Reptilia ARSF6
    --
    		 --
    		 61(a)
    41(a)
    		 1 ↔ many
    possible ortholog
    		 3(114039020-114059118)
    GL344984.1(10385-13196)
    zebrafish
    (Danio rerio)    		 Actinopterygii arsh6
    		 arylsulfatase H
    		 53(a)
    		 1 → many
    		 9(57794391-57813088)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ydeN6
    aslA6
    		 acrylsulfatase-like enzyme
    		 18(a)
    17(a)
    		 possible ortholog
    1 ↔ many
    		 Chromosome(1578866-1580548)
    Chromosome(3982375-3984030)


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

    Paralogs
    for ARSE gene

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


    Genomic Variants
    for ARSE 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

    10/577 NCBI SNPs in ARSE are shown (see all 577)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803387141,2
    		Cpathogenic2852900(-) TGCTGA/GTGCCT 2 * W stg10--------
    rs289354741,2
    		Cpathogenic2852911(-) CGTTCC/TCCCTC 2 P S mis1 trp31Minor allele frequency- T:0.00NA 2
    rs803387111,2
    		Cpathogenic2871204(-) GAAAGC/G/TCTATG 3 A G V mis10--------
    rs285450961,2
    		C,--2852238(+) ACCACA/GCCTGG 1 -- ds50010--------
    rs286025571,2
    		C,--2852362(+) CCAAAG/ATGCCG 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1842326721,2
    		--2852498(+) GACACG/TGAAGT 1 -- ds50010--------
    rs1463824521,2
    		C,--2852599(+) ACAGCC/GTCCAA 1 -- ds50010--------
    rs1393147331,2
    		C,--2852602(+) GCCTCC/TAACTC 1 -- ds50010--------
    rs1433404981,2
    		--2852608(+) AACTCC/TGGTGC 1 -- ds50010--------
    rs59829271,2
    		C,--2852706(+) tttgtA/Ggagct 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ARSE (2852673 - 2886286 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ARSE
         3 CNVs: 3260 8293 4142
    Human Gene Mutation Database (HGMD): ARSE

    Locus Specific Mutation Databases (LSDB): ARSE

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

    Disorders / Diseases
    for ARSE 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
    ARSE for disorders           About GeneDecksing

    OMIM gene information: 300180   
    OMIM disorders: 302950  
    UniProtKB/Swiss-Prot: ARSE_HUMAN, P51690
  • Defects in ARSE are the cause of chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]. CDP
    • is 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

    20/24 diseases for ARSE (see all 24):    About MalaCards
    chondrodysplasia punctata    chondrodysplasia    chondrodysplasia punctata 1, x-linked    chondrodysplasia punctata 1, x-linked recessive
    chondrodysplasia punctata, x-linked recessive    mucopolysaccharidosis vi    metachromatic leukodystrophy    short stature
    tracheal stenosis    learning disability    ocular albinism    x inactivation
    generalized epilepsy    intellectual disability    kallmann syndrome    albinism
    mucopolysaccharidosis    gastric dilatation    dwarfism    leukodystrophy

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

    3 Novoseek 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
    Chondrodysplasia Punctata 1, X-Linked Recessive


    Export disorders for ARSE gene to outside databases

    Publications
    for ARSE 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 ARSE gene, integrated from 9 sources (see all 26):
    (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. 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)
    6. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. (PubMed id 18348268)1, 9 Nino M....Braverman N. (2008)
    7. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. (PubMed id 8845834)1, 9 Meroni G....Ballabio A. (1996)
    8. Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. (PubMed id 11177574)1, 9 Urbitsch P.... Vogt P.H. (2000)
    9. 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 Carty C.L....Kooperberg C. (2012)
    10. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1 N'Diaye A....Haiman C.A. (2011)

    External Searches for ARSE gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ARSE gene

    (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

    Other Databases showing ARSE gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for ARSE gene

    (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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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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