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ARSE (human)

Overview ARSE May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates. Defects in ARSE are the cause of chondrodysplasia punctata X-linked recessive type 1 (CDPX1). 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. Belongs to the sulfatase family. Note: This description may include information from UniProtKB. Protein type: EC 3.1.6.-; Hydrolase Cellular Component: Golgi stack; endoplasmic reticulum lumen Molecular Function: arylsulfatase activity; metal ion binding Biological Process: sphingolipid metabolic process; cellular protein metabolic process; phospholipid metabolic process; glycosphingolipid metabolic process; post-translational protein modification; skeletal development Reference #:  P51690 (UniProtKB) Alt. Names/Synonyms: ARSE; Arylsulfatase E; arylsulfatase E (chondrodysplasia punctata 1); ASE; CDPX; CDPX1; CDPXR; chondrodysplasia punctata 1; MGC163310 Gene Symbols: ARSE Molecular weight: 65,669 Da Basal Isoelectric point: 6.48  Predict pI for various phosphorylation states

Select Structure to View Below ARSE

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  ENZYME  |  DISEASE 300180 302950  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		S81-p	VKLTQHIsAAsLCTP
0	1		S84-p	TQHIsAAsLCTPSRA
0	1		Y98-p	AAFLTGRyPVRSGMV

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