Human Gene ARSE (uc004crc.4) Description and Page Index
  Description: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.
RefSeq Summary (NM_000047): 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].
Transcript (Including UTRs)
   Position: chrX:2,852,673-2,882,494 Size: 29,822 Total Exon Count: 11 Strand: -
Coding Region
   Position: chrX:2,852,873-2,878,441 Size: 25,569 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesMicroarray
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:2,852,673-2,882,494)mRNA (may differ from genome)Protein (589 aa)
Gene SorterGenome BrowserProtein FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkGepis Tissue
HGNCHPRDJackson LabLynxMOPEDneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ARSE_HUMAN
DESCRIPTION: RecName: Full=Arylsulfatase E; Short=ASE; EC=3.1.6.-; Flags: Precursor;
FUNCTION: May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.
COFACTOR: Binds 1 calcium ion per subunit (By similarity).
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;
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack.
TISSUE SPECIFICITY: Expressed in the pancreas, liver and kidney.
PTM: N-glycosylated.
PTM: 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).
DISEASE: 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.
SIMILARITY: Belongs to the sulfatase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARSE";

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Common Gene Haplotype Alleles
 
Generated from 1000 Genomes Phase1 variants (help). Note the association of SNP alleles within a haplotype is statistically imputed rather than directly observed in most cases.
Restricted to 2 non-synonymous, common variant sites with a frequency of occurrence of at least 1%.
All variations and sequence reflect the negative ('-' or "reverse") strand.
HaplotypeHomozygous Variant Sites
Freq %Freq %RefIG
57.248.3 I S
40.129.0refIG
2.591.28  VG
Common gene haplotypes shown: 3 of 4.
  

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -97.00250-0.388 Picture PostScript Text
3' UTR -46.10200-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017849 - Alkaline_Pase-like_a/b/a
IPR017850 - Alkaline_phosphatase_core
IPR000917 - Sulfatase
IPR024607 - Sulfatase_CS

Pfam Domains:
PF00884 - Sulfatase

SCOP Domains:
53649 - Alkaline phosphatase-like

ModBase Predicted Comparative 3D Structure on P51690
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004065 arylsulfatase activity
GO:0008484 sulfuric ester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0001501 skeletal system development
GO:0006665 sphingolipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0008152 metabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process

Cellular Component:
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack


-  Descriptions from all associated GenBank mRNAs
  AK293648 - Homo sapiens cDNA FLJ50116 complete cds, highly similar to Arylsulfatase E precursor (EC 3.1.6.-).
BC130438 - Homo sapiens arylsulfatase E (chondrodysplasia punctata 1), mRNA (cDNA clone MGC:163310 IMAGE:40146469), complete cds.
X83573 - Homo sapiens ARSE gene, complete CDS.
AK301004 - Homo sapiens cDNA FLJ50239 complete cds, highly similar to Arylsulfatase E precursor (EC 3.1.6.-).
AK223199 - Homo sapiens mRNA for arylsulfatase E precursor variant, clone: REC03612.
AK223183 - Homo sapiens mRNA for arylsulfatase E precursor variant, clone: PNC03043.
AK313093 - Homo sapiens cDNA, FLJ93576, highly similar to Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.
HQ258324 - Synthetic construct Homo sapiens clone IMAGE:100072633 arylsulfatase E (chondrodysplasia punctata 1) (ARSE) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P51690 (Reactome details) participates in the following event(s):

1614362 SUMF1 mediates the oxidation of cysteine to formylglycine, producing active arylsulfatases
1660662 Glycosphingolipid metabolism
1663150 The activation of arylsulfatases
428157 Sphingolipid metabolism
163841 PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
556833 Metabolism of lipids and lipoproteins
597592 Post-translational protein modification
1430728 Metabolism
392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ARSE_HUMAN, NM_000047, NP_000038, P51690, Q53FT2, Q53FU8
UCSC ID: uc004crc.4
RefSeq Accession: NM_000047
Protein: P51690 (aka ARSE_HUMAN)
CCDS: CCDS14122.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ARSE:
cdp1-xlr (Chondrodysplasia Punctata 1, X-Linked)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000047.2
exon count: 11CDS single in 3' UTR: no RNA size: 2220
ORF size: 1770CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3661.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.