Version 5.4
Homo sapiens Gene: ARSE
Summary
InnateDB Gene IDBG-41216.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARSE
Gene Name arylsulfatase E (chondrodysplasia punctata 1)
Synonyms ASE; CDPX; CDPX1; CDPXR
Species Homo sapiens
Ensembl Gene ENSG00000157399
Encoded Proteins
IDBP-41222
arylsulfatase E (chondrodysplasia punctata 1)
IDBP-361327
arylsulfatase E (chondrodysplasia punctata 1)
IDBP-591063
arylsulfatase E (chondrodysplasia punctata 1)
IDBP-599645
arylsulfatase E (chondrodysplasia punctata 1)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:2934632-2968310
Strand Reverse strand
Band p22.33
Transcripts
ENST00000381134 ENSP00000370526
ENST00000438544 ENSP00000406528
ENST00000483425
ENST00000496095
ENST00000540563 ENSP00000438198
ENST00000545496 ENSP00000441417
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004065 arylsulfatase activity
GO:0008484 sulfuric ester 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:0005795 Golgi stack
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_121036
The activation of arylsulfatases pathway
REACT_116105
Glycosphingolipid metabolism pathway
REACT_19323
Sphingolipid metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_22161
Post-translational protein modification pathway
REACT_1069
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway
REACT_17015
Metabolism of proteins pathway
REACT_111217
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P51690
TrEMBL C9J5G7 F5GYY5 F5H324
UniProt Splice Variant
Entrez Gene 415
UniGene Hs.386975 Hs.616103
RefSeq NM_000047 NM_001282628 NM_001282631 XM_005274518 XM_005274519 XM_005274521
HUGO HGNC:719
OMIM 300180
CCDS CCDS14122 CCDS75948 CCDS75949
HPRD
IMGT
EMBL AC005295 AK223183 AK223199 X83573
GenPept BAD96903 BAD96919 CAA58556
RNA Seq Atlas 415

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca