InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IDS

Summary

InnateDB Protein

IDBP-88526.7

Last Modified

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

Gene Symbol

IDS

Protein Name

iduronate 2-sulfatase

Synonyms

MPS2; SIDS;

Species

Homo sapiens

Ensembl Protein

ENSP00000359470

InnateDB Gene

IDBG-88518 (IDS)

Protein Structure

UniProt Annotation

Function

Required for the lysosomal degradation of heparan sulfate and dermatan sulfate.

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 2 (MPS2) [MIM:309900]: An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation. {ECO:0000269PubMed:10215411, ECO:0000269PubMed:10220152, ECO:0000269PubMed:10447264, ECO:0000269PubMed:10671065, ECO:0000269PubMed:11015461, ECO:0000269PubMed:11683780, ECO:0000269PubMed:11731225, ECO:0000269PubMed:12655569, ECO:0000269PubMed:12794697, ECO:0000269PubMed:1284597, ECO:0000269PubMed:1303211, ECO:0000269PubMed:16699754, ECO:0000269PubMed:7581397, ECO:0000269PubMed:7599640, ECO:0000269PubMed:7728156, ECO:0000269PubMed:7866405, ECO:0000269PubMed:7887413, ECO:0000269PubMed:7981716, ECO:0000269PubMed:8281149, ECO:0000269PubMed:8566953, ECO:0000269PubMed:8664909, ECO:0000269PubMed:8830188, ECO:0000269PubMed:8940265, ECO:0000269PubMed:9222763, ECO:0000269PubMed:9266380, ECO:0000269PubMed:9375851, ECO:0000269PubMed:9452044, ECO:0000269PubMed:9501270, ECO:0000269PubMed:9660053, ECO:0000269PubMed:9762601, ECO:0000269PubMed:9875019, ECO:0000269PubMed:9921913, ECO:0000269PubMed:9950361}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Liver, kidney, lung, and placenta.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	2 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004423	iduronate-2-sulfatase activity
GO:0008484	sulfuric ester hydrolase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0008152	metabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0030207	chondroitin sulfate catabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0043202

lysosomal lumen

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

P22304

PhosphoSite