Iduronate-2-sulfatase

Iduronate 2-sulfatase

Identifiers

IDS; MPS2; SIDS

External IDs

OMIM: 300823 MGI: 96417 HomoloGene: 169 GeneCards: IDS Gene

3.1.6.13

Gene Ontology
Molecular function	• iduronate-2-sulfatase activity • hydrolase activity • metal ion binding
Cellular component	• lysosome
Biological process	• metabolic process • glycosaminoglycan metabolic process
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr X:
148.56 – 148.62 Mb

Chr X:
67.6 – 67.62 Mb

PubMed search

[1]

[2]

Iduronate-2-sulfatase is a sulfatase enzyme associated with Hunter syndrome.

Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked Mucopolysaccharidosis Type II, also known as Hunter Syndrome. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described.^[1]

1 References
2 External links
3 Further reading
4 See also

References

^ "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3423.

External links

GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II

Hopwood JJ, Bunge S, Morris CP, et al. (1994). "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.". Hum. Mutat. 2 (6): 435–42. doi:10.1002/humu.1380020603. PMID 8111411.
Gort L, Chabás A, Coll MJ (1998). "Hunter disease in the Spanish population: molecular analysis in 31 families.". J. Inherit. Metab. Dis. 21 (6): 655–61. doi:10.1023/A:1005432600871. PMID 9762601.
Crotty PL, Braun SE, Anderson RA, Whitley CB (1993). "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.". Hum. Mol. Genet. 1 (9): 755–7. doi:10.1093/hmg/1.9.755. PMID 1284597.
Bunge S, Steglich C, Beck M, et al. (1993). "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).". Hum. Mol. Genet. 1 (5): 335–9. doi:10.1093/hmg/1.5.335. PMID 1303211.
Beck M, Steglich C, Zabel B, et al. (1992). "Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.". Am. J. Med. Genet. 44 (1): 100–3. doi:10.1002/ajmg.1320440123. PMID 1355630.
Sukegawa K, Tomatsu S, Tamai K, et al. (1992). "Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.". Biochem. Biophys. Res. Commun. 183 (2): 809–13. doi:10.1016/0006-291X(92)90555-Y. PMID 1550586.
Flomen RH, Green PM, Bentley DR, et al. (1992). "Detection of point mutations and a gross deletion in six Hunter syndrome patients.". Genomics 13 (3): 543–50. doi:10.1016/0888-7543(92)90123-A. PMID 1639384.
Wilson PJ, Suthers GK, Callen DF, et al. (1991). "Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.". Hum. Genet. 86 (5): 505–8. doi:10.1007/BF00194643. PMID 1901826.
Wraith JE, Cooper A, Thornley M, et al. (1991). "The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).". Hum. Genet. 87 (2): 205–6. doi:10.1007/BF00204183. PMID 1906048.
Wilson PJ, Morris CP, Anson DS, et al. (1990). "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.". Proc. Natl. Acad. Sci. U.S.A. 87 (21): 8531–5. doi:10.1073/pnas.87.21.8531. PMC 54990. PMID 2122463. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=54990.
Bielicki J, Freeman C, Clements PR, Hopwood JJ (1990). "Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties.". Biochem. J. 271 (1): 75–86. PMC 1149515. PMID 2222422. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1149515.
Daniele A, Di Natale P (1987). "Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.". Hum. Genet. 75 (3): 234–8. doi:10.1007/BF00281065. PMID 3104200.
Mossman J, Blunt S, Stephens R, et al. (1984). "Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.". Arch. Dis. Child. 58 (11): 911–5. doi:10.1136/adc.58.11.911. PMC 1628393. PMID 6418082. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1628393.
Sukegawa K, Tomatsu S, Fukao T, et al. (1995). "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.". Hum. Mutat. 6 (2): 136–43. doi:10.1002/humu.1380060206. PMID 7581397.
Li P, Huffman P, Thompson JN (1995). "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.". Hum. Mutat. 5 (3): 272–4. doi:10.1002/humu.1380050314. PMID 7599640.
Popowska E, Rathmann M, Tylki-Szymanska A, et al. (1995). "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).". Hum. Mutat. 5 (1): 97–100. doi:10.1002/humu.1380050114. PMID 7728156.
Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D (1995). "Mutation analysis of Jewish Hunter patients in Israel.". Hum. Mutat. 4 (4): 263–70. doi:10.1002/humu.1380040406. PMID 7866405.
Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995). "Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.". Am. J. Hum. Genet. 56 (3): 597–607. PMC 1801163. PMID 7887413. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1801163.
Schröder W, Wulff K, Wehnert M, et al. (1994). "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).". Hum. Mutat. 4 (2): 128–31. doi:10.1002/humu.1380040206. PMID 7981716.

Alkaline phosphatase (ALPI, ALPL, ALPP) · Acid phosphatase (Prostatic)/Tartrate-resistant acid phosphatase/Purple acid phosphatases · Nucleotidase · Glucose 6-phosphatase · Fructose 1,6-bisphosphatase · Calcineurin · Phosphoprotein phosphatase (PP2A) · OCRL · Pyruvate dehydrogenase phosphatase · Fructose 6-P,2-kinase:fructose 2,6-bisphosphatase · PTEN · Phytase · Inositol-phosphate phosphatase (IMPA1)

Phosphoprotein phosphatase: Protein tyrosine phosphatase · Protein serine/threonine phosphatase · Dual-specificity phosphatase

3.1.4: Phosphodiesterase

Autotaxin · Phospholipase (C, D) · Sphingomyelin phosphodiesterase (1) · PDE1 · PDE2 · PDE3 · PDE4A/PDE4B · PDE5 · Lecithinase (Clostridium perfringens alpha toxin) · Cyclic nucleotide phosphodiesterase

3.1.6: Sulfatase

arylsulfatase (Arylsulfatase A, Arylsulfatase B, Arylsulfatase E, Steroid sulfatase) · Galactosamine-6 sulfatase · Iduronate-2-sulfatase · N-acetylglucosamine-6-sulfatase

Nuclease (includes
deoxyribonuclease and
ribonuclease)

3.1.11-16: Exonuclease

Exodeoxyribonuclease	RecBCD

Exoribonuclease	Oligonucleotidase

3.1.21-31: Endonuclease

Endodeoxyribonuclease	Deoxyribonuclease I · Deoxyribonuclease II · Deoxyribonuclease IV · Restriction enzyme · UvrABC endonuclease

Endoribonuclease	RNase III · RNase H (1, 2A, 2B, 2C) · RNase P · RNase A (1, 2, 3, 4/5) · RNase T1 · RNA-induced silencing complex

either deoxy- or ribo-	Aspergillus nuclease S1 · Micrococcal nuclease

B enzm: 1.1/2/3/4/5/6/7/8/10/11/13/14/15-18, 2.1/2/3/4/5/6/7/8, 2.7.10, 2.7.11-12, 3.1/2/3/4/5/6/7, 3.1.3.48, 3.4.21/22/23/24, 4.1/2/3/4/5/6, 5.1/2/3/4/99, 6.1-3/4/5-6

Metabolism: carbohydrate metabolism · proteoglycan enzymes

glycosaminoglycan anabolism

L-xylulose reductase · L-gulonolactone oxidase · UDP-glucuronate 5'-epimerase · Xylosyltransferase · Sulfotransferase

Heparan sulfate: EXT1 · EXT2

Chondroitin sulfate: PAPSS1 · PAPSS2

glycosaminoglycan catabolism

Hunter, Hurler	Iduronate-2-sulfatase · Iduronidase

Sanfilippo, Sly	Heparan sulfamidase · N-acetyltransferase · Alpha-N-acetylglucosaminidase · Glucuronidase · N-acetylglucosamine-6-sulfatase

Morquio/Maroteaux-Lamy	Arylsulfatase B · Galactosamine-6 sulfatase · Beta-galactosidase (GLB1)

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Iduronate-2-sulfatase

Contents

References

External links

Further reading

See also