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{{Infobox_gene}}
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'''Iduronate 2-sulfatase''' ('''IDS''') is a [[sulfatase]] [[enzyme]] associated with [[Hunter syndrome]].<ref name = "entrez"/>
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| require_manual_inspection = no
| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Iduronate 2-sulfatase (Hunter syndrome)
| HGNCid = 5389
| Symbol = IDS
| AltSymbols =; MPS2; SIDS
| OMIM = 309900
| ECnumber =  3.1.6.13
| Homologene = 169
| MGIid = 96417
| Function = {{GNF_GO|id=GO:0004423 |text = iduronate-2-sulfatase activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008484 |text = sulfuric ester hydrolase activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005764 |text = lysosome}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0008152 |text = metabolic process}} {{GNF_GO|id=GO:0030203 |text = glycosaminoglycan metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3423
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_000193
    | Hs_RefseqmRNA = NM_000202
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 15931
    | Mm_Ensembl = ENSMUSG00000035847
    | Mm_RefseqmRNA = NM_001038990
    | Mm_RefseqProtein = NP_001034079
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 66603734
    | Mm_GenLoc_end = 66625640
    | Mm_Uniprot = Q8CJ15
  }}
}}


'''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 [[arylsulfatase]]s A, B, and C, and human [[glucosamine-6-sulfatase]]. A splice variant of this gene has been described.<ref name = "entrez">{{cite web | title = Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3423| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== See also ==
{{PBB_Summary
* [[Idursulfase]]
| section_title =  
| summary_text = 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.<ref>{{cite web | title = Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3423| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
{{clear}}
{{refbegin | 2}}
== Further reading ==
{{PBB_Further_reading
{{refbegin|33em}}
| citations =
* {{cite journal | vauthors = Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A | title = Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene | journal = Human Mutation | volume = 2 | issue = 6 | pages = 435–42 | year = 1994 | pmid = 8111411 | doi = 10.1002/humu.1380020603 }}
*{{cite journal | author=Hopwood JJ, Bunge S, Morris CP, ''et al.'' |title=Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. |journal=Hum. Mutat. |volume=2 |issue= 6 |pages= 435-42 |year= 1994 |pmid= 8111411 |doi= 10.1002/humu.1380020603 }}
* {{cite journal | vauthors = Gort L, Chabás A, Coll MJ | title = Hunter disease in the Spanish population: molecular analysis in 31 families | journal = Journal of Inherited Metabolic Disease | volume = 21 | issue = 6 | pages = 655–61 | date = Aug 1998 | pmid = 9762601 | doi = 10.1023/A:1005432600871 }}
*{{cite journal | author=Gort L, Chabás A, Coll MJ |title=Hunter disease in the Spanish population: molecular analysis in 31 families. |journal=J. Inherit. Metab. Dis. |volume=21 |issue= 6 |pages= 655-61 |year= 1998 |pmid= 9762601 |doi= }}
* {{cite journal | vauthors = Crotty PL, Braun SE, Anderson RA, Whitley CB | title = Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression | journal = Human Molecular Genetics | volume = 1 | issue = 9 | pages = 755–7 | date = Dec 1992 | pmid = 1284597 | doi = 10.1093/hmg/1.9.755 }}
*{{cite journal | author=Crotty PL, Braun SE, Anderson RA, Whitley CB |title=Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. |journal=Hum. Mol. Genet. |volume=1 |issue= 9 |pages= 755-7 |year= 1993 |pmid= 1284597 |doi= }}
* {{cite journal | vauthors = Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A | title = Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome) | journal = Human Molecular Genetics | volume = 1 | issue = 5 | pages = 335–9 | date = Aug 1992 | pmid = 1303211 | doi = 10.1093/hmg/1.5.335 }}
*{{cite journal | author=Bunge S, Steglich C, Beck M, ''et al.'' |title=Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). |journal=Hum. Mol. Genet. |volume=1 |issue= 5 |pages= 335-9 |year= 1993 |pmid= 1303211 |doi= }}
* {{cite journal | vauthors = Beck M, Steglich C, Zabel B, Dahl N, Schwinger E, Hopwood JJ, Gal A | title = Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II | journal = American Journal of Medical Genetics | volume = 44 | issue = 1 | pages = 100–3 | date = Sep 1992 | pmid = 1355630 | doi = 10.1002/ajmg.1320440123 }}
*{{cite journal | author=Beck M, Steglich C, Zabel B, ''et al.'' |title=Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. |journal=Am. J. Med. Genet. |volume=44 |issue= 1 |pages= 100-3 |year= 1992 |pmid= 1355630 |doi= 10.1002/ajmg.1320440123 }}
* {{cite journal | vauthors = Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T | title = Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene | journal = Biochemical and Biophysical Research Communications | volume = 183 | issue = 2 | pages = 809–13 | date = Mar 1992 | pmid = 1550586 | doi = 10.1016/0006-291X(92)90555-Y }}
*{{cite journal | author=Sukegawa K, Tomatsu S, Tamai K, ''et al.'' |title=Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. |journal=Biochem. Biophys. Res. Commun. |volume=183 |issue= 2 |pages= 809-13 |year= 1992 |pmid= 1550586 |doi= }}
* {{cite journal | vauthors = Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP | title = Detection of point mutations and a gross deletion in six Hunter syndrome patients | journal = Genomics | volume = 13 | issue = 3 | pages = 543–50 | date = Jul 1992 | pmid = 1639384 | doi = 10.1016/0888-7543(92)90123-A }}
*{{cite journal | author=Flomen RH, Green PM, Bentley DR, ''et al.'' |title=Detection of point mutations and a gross deletion in six Hunter syndrome patients. |journal=Genomics |volume=13 |issue= 3 |pages= 543-50 |year= 1992 |pmid= 1639384 |doi= }}
* {{cite journal | vauthors = Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ | title = Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome | journal = Human Genetics | volume = 86 | issue = 5 | pages = 505–8 | date = Mar 1991 | pmid = 1901826 | doi = 10.1007/BF00194643 }}
*{{cite journal | author=Wilson PJ, Suthers GK, Callen DF, ''et al.'' |title=Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. |journal=Hum. Genet. |volume=86 |issue= 5 |pages= 505-8 |year= 1991 |pmid= 1901826 |doi= }}
* {{cite journal | vauthors = Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ | title = The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome) | journal = Human Genetics | volume = 87 | issue = 2 | pages = 205–6 | date = Jun 1991 | pmid = 1906048 | doi = 10.1007/BF00204183 }}
*{{cite journal | author=Wraith JE, Cooper A, Thornley M, ''et al.'' |title=The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). |journal=Hum. Genet. |volume=87 |issue= 2 |pages= 205-6 |year= 1991 |pmid= 1906048 |doi= }}
* {{cite journal | vauthors = Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ | title = Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 87 | issue = 21 | pages = 8531–5 | date = Nov 1990 | pmid = 2122463 | pmc = 54990 | doi = 10.1073/pnas.87.21.8531 }}
*{{cite journal | author=Wilson PJ, Morris CP, Anson DS, ''et al.'' |title=Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 21 |pages= 8531-5 |year= 1990 |pmid= 2122463 |doi= }}
* {{cite journal | vauthors = Bielicki J, Freeman C, Clements PR, Hopwood JJ | title = Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties | journal = The Biochemical Journal | volume = 271 | issue = 1 | pages = 75–86 | date = Oct 1990 | pmid = 2222422 | pmc = 1149515 | doi =  }}
*{{cite journal | author=Bielicki J, Freeman C, Clements PR, Hopwood JJ |title=Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties. |journal=Biochem. J. |volume=271 |issue= 1 |pages= 75-86 |year= 1990 |pmid= 2222422 |doi=  }}
* {{cite journal | vauthors = Daniele A, Di Natale P | title = Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase | journal = Human Genetics | volume = 75 | issue = 3 | pages = 234–8 | date = Mar 1987 | pmid = 3104200 | doi = 10.1007/BF00281065 }}
*{{cite journal | author=Daniele A, Di Natale P |title=Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase. |journal=Hum. Genet. |volume=75 |issue= 3 |pages= 234-8 |year= 1987 |pmid= 3104200 |doi= }}
* {{cite journal | vauthors = Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M | title = Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene | journal = Archives of Disease in Childhood | volume = 58 | issue = 11 | pages = 911–5 | date = Nov 1983 | pmid = 6418082 | pmc = 1628393 | doi = 10.1136/adc.58.11.911 }}
*{{cite journal | author=Mossman J, Blunt S, Stephens R, ''et al.'' |title=Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. |journal=Arch. Dis. Child. |volume=58 |issue= 11 |pages= 911-5 |year= 1984 |pmid= 6418082 |doi= }}
* {{cite journal | vauthors = Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T | title = Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients | journal = Human Mutation | volume = 6 | issue = 2 | pages = 136–43 | year = 1995 | pmid = 7581397 | doi = 10.1002/humu.1380060206 }}
*{{cite journal | author=Sukegawa K, Tomatsu S, Fukao T, ''et al.'' |title=Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. |journal=Hum. Mutat. |volume=6 |issue= 2 |pages= 136-43 |year= 1995 |pmid= 7581397 |doi= 10.1002/humu.1380060206 }}
* {{cite journal | vauthors = Li P, Huffman P, Thompson JN | title = Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome | journal = Human Mutation | volume = 5 | issue = 3 | pages = 272–4 | year = 1995 | pmid = 7599640 | doi = 10.1002/humu.1380050314 }}
*{{cite journal | author=Li P, Huffman P, Thompson JN |title=Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. |journal=Hum. Mutat. |volume=5 |issue= 3 |pages= 272-4 |year= 1995 |pmid= 7599640 |doi= 10.1002/humu.1380050314 }}
* {{cite journal | vauthors = Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A | title = Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome) | journal = Human Mutation | volume = 5 | issue = 1 | pages = 97–100 | year = 1995 | pmid = 7728156 | doi = 10.1002/humu.1380050114 }}
*{{cite journal | author=Popowska E, Rathmann M, Tylki-Szymanska A, ''et al.'' |title=Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). |journal=Hum. Mutat. |volume=5 |issue= 1 |pages= 97-100 |year= 1995 |pmid= 7728156 |doi= 10.1002/humu.1380050114 }}
* {{cite journal | vauthors = Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D | title = Mutation analysis of Jewish Hunter patients in Israel | journal = Human Mutation | volume = 4 | issue = 4 | pages = 263–70 | year = 1995 | pmid = 7866405 | doi = 10.1002/humu.1380040406 }}
*{{cite journal | author=Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D |title=Mutation analysis of Jewish Hunter patients in Israel. |journal=Hum. Mutat. |volume=4 |issue= 4 |pages= 263-70 |year= 1995 |pmid= 7866405 |doi= 10.1002/humu.1380040406 }}
* {{cite journal | vauthors = Jonsson JJ, Aronovich EL, Braun SE, Whitley CB | title = Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene | journal = American Journal of Human Genetics | volume = 56 | issue = 3 | pages = 597–607 | date = Mar 1995 | pmid = 7887413 | pmc = 1801163 | doi =  }}
*{{cite journal | author=Jonsson JJ, Aronovich EL, Braun SE, Whitley CB |title=Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. |journal=Am. J. Hum. Genet. |volume=56 |issue= 3 |pages= 597-607 |year= 1995 |pmid= 7887413 |doi=  }}
* {{cite journal | vauthors = Schröder W, Wulff K, Wehnert M, Seidlitz G, Herrmann FH | title = Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II) | journal = Human Mutation | volume = 4 | issue = 2 | pages = 128–31 | year = 1994 | pmid = 7981716 | doi = 10.1002/humu.1380040206 }}
*{{cite journal | author=Schröder W, Wulff K, Wehnert M, ''et al.'' |title=Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). |journal=Hum. Mutat. |volume=4 |issue= 2 |pages= 128-31 |year= 1994 |pmid= 7981716 |doi= 10.1002/humu.1380040206 }}
}}
{{refend}}
{{refend}}


==See also==
== External links ==
* [[Idursulfase]]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter  GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II]


{{hydrolase-stub}}
{{Glycosaminoglycan catabolism}}
{{Esterases}}
{{Esterases}}
{{Glycosaminoglycan catabolism}}
{{Enzymes}}
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{{DEFAULTSORT:Iduronate-2-Sulfatase}}
[[Category:EC 3.1.6]]
[[Category:EC 3.1.6]]
{{WikiDoc Sources}}

Latest revision as of 01:12, 1 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Iduronate 2-sulfatase (IDS) is a sulfatase enzyme associated with Hunter syndrome.[1]

Function

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]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)".

Further reading

External links

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