InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARSE

Summary

InnateDB Protein

IDBP-41222.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARSE

Protein Name

arylsulfatase E (chondrodysplasia punctata 1)

Synonyms

ASE; CDPX; CDPX1; CDPXR;

Species

Homo sapiens

Ensembl Protein

ENSP00000370526

InnateDB Gene

IDBG-41216 (ARSE)

Protein Structure

UniProt Annotation

Function

May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.

Subcellular Localization

Golgi apparatus, Golgi stack.

Disease Associations

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. {ECO:0000269PubMed:12567415, ECO:0000269PubMed:7720070, ECO:0000269PubMed:9409863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the pancreas, liver and kidney.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000917 Sulfatase
IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
IPR017850 Alkaline-phosphatase-like, core domain

PFAM

PF00884
PF01663

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P51690

PhosphoSite