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
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";
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.
ModBase Predicted Comparative 3D Structure on P51690
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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.
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.
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