イズロン酸スルファターゼ
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/29 19:04:58」(JST)
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| Iduronate 2-sulfatase |
| Identifiers |
| Symbols |
IDS; MPS2; SIDS |
| External IDs |
OMIM: 300823 MGI: 96417 HomoloGene: 169 GeneCards: IDS Gene |
| EC number |
3.1.6.13 |
| Gene Ontology |
| Molecular function |
• iduronate-2-sulfatase activity
• metal ion binding
|
| Cellular component |
• lysosomal lumen
|
| Biological process |
• carbohydrate metabolic process
• glycosaminoglycan catabolic process
• glycosaminoglycan metabolic process
• chondroitin sulfate metabolic process
• chondroitin sulfate catabolic process
• small molecule metabolic process
|
| Sources: Amigo / QuickGO |
|
| Orthologs |
| Species |
Human |
Mouse |
|
| Entrez |
3423 |
15931 |
|
| Ensembl |
ENSG00000010404 |
ENSMUSG00000035847 |
|
| UniProt |
P22304 |
Q08890 |
|
| RefSeq (mRNA) |
NM_000202 |
NM_001038990 |
|
| RefSeq (protein) |
NP_000193 |
NP_034628 |
|
| Location (UCSC) |
Chr HG1459_PATCH:
148.56 – 148.62 Mb |
Chr X:
70.34 – 70.37 Mb |
|
| PubMed search |
[1] |
[2] |
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|
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]
Contents
- 1 References
- 2 External links
- 3 Further reading
- 4 See also
References[edit]
- ^ "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)".
External links[edit]
- GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II
Further reading[edit]
- 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.
- 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.
- 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.
- 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.
- 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.
See also[edit]
|
Hydrolase: esterases (EC 3.1)
|
|
| 3.1.1: Carboxylic ester hydrolases |
- Cholinesterase
- Acetylcholinesterase
- Butyrylcholinesterase
- Pectinesterase
- 6-phosphogluconolactonase
- PAF acetylhydrolase
- Lipase
- Bile salt-dependent
- Gastric/Lingual
- Pancreatic
- Lysosomal
- Hormone-sensitive
- Endothelial
- Hepatic
- Lipoprotein
- Monoacylglycerol
- Diacylglycerol
|
|
| 3.1.2: Thioesterase |
- Palmitoyl protein thioesterase
- Ubiquitin carboxy-terminal hydrolase L1
|
|
| 3.1.3: Phosphatase |
- Alkaline phosphatase
- Acid phosphatase (Prostatic)/Tartrate-resistant acid phosphatase/Purple acid phosphatases
- Nucleotidase
- Glucose 6-phosphatase
- Fructose 1,6-bisphosphatase
- Phosphoprotein phosphatase
- OCRL
- Pyruvate dehydrogenase phosphatase
- Fructose 6-P,2-kinase:fructose 2,6-bisphosphatase
- PTEN
- Phytase
- Inositol-phosphate phosphatase
- Phosphoprotein phosphatase: Protein tyrosine phosphatase
- Protein serine/threonine phosphatase
- Dual-specificity phosphatase
|
|
| 3.1.4: Phosphodiesterase |
- Autotaxin
- Phospholipase
- Sphingomyelin phosphodiesterase
- 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 |
|
|
| Exoribonuclease |
|
|
|
| 3.1.21-31: Endonuclease |
| Endodeoxyribonuclease |
- Deoxyribonuclease I
- Deoxyribonuclease II
- Deoxyribonuclease IV
- Restriction enzyme
- UvrABC endonuclease
|
|
| Endoribonuclease |
- RNase III
- RNase H
- RNase P
- RNase A
- 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
- 3.1
- 4.1
- 5.1
- 6.1-3
|
|
|
|
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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
|
|
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Sanfilippo, Sly
|
Heparan sulfamidase · N-acetyltransferase · Alpha-N-acetylglucosaminidase · Glucuronidase · N-acetylglucosamine-6-sulfatase
|
|
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Morquio/Maroteaux-Lamy
|
Arylsulfatase B · Galactosamine-6 sulfatase · Beta-galactosidase (GLB1)
|
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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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)
|
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|
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UpToDate Contents
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English Journal
- Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
- Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK.SourceDepartment of Medical Genetics, Ajou University Hospital, Suwon, South Korea.
- American journal of medical genetics. Part A.Am J Med Genet A.2013 Mar 25. doi: 10.1002/ajmg.a.35869. [Epub ahead of print]
- Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome (OMIM 309900), is a rare, X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS; EC 3.1.6.13), which is involved in the lysosomal degradation of glycosaminoglycans (GAG). Although intermittent in
- PMID 23529876
- Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II Patient.
- Volpi N, Zampini L, Maccari F, Santoro L, Galeotti F, Galeazzi T, Gabrielli O, Coppa GV.SourceDepartment of Life Sciences, University of Modena & Reggio Emilia, Via Campi 213/D, 41100, Modena, Italy, volpi@unimo.it.
- Glycoconjugate journal.Glycoconj J.2013 Mar 20. [Epub ahead of print]
- Enzyme replacement therapy (ERT) is the worldwide standard of care for a number of mucopolysaccharidosis (MPS) diseases. We report a kinetic study of plasmatic dermatan sulfate (DS) in a 3-year-old subject affected by a severe form of MPS II during the first 10 months of ERT with Idursulfase. A str
- PMID 23512580
- Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
- Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK.SourceDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Seoul, Gangnam-ku 135-710, South Korea. jindk@skku.edu.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42.
- BACKGROUND: Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many organs and tissues contributing to the pathology as
- PMID 23497636
Japanese Journal
- 不眠, 自殺念慮を主訴に精神科治療を受けていた閉塞型睡眠時無呼吸を呈した Hunter 症候群の1例
- 渡辺 彰,宮崎 英明,加藤 大雅 [他],福居 和人,堀 宏之,平瀬 裕章,原城 達夫,平田 昌義,太田 正之
- 日本内科学会雑誌 96(2), 338-340, 2007-02-10
- … Hunter症候群はムコ多糖症（Muchopolysaccaridosis，MPS）2型とも呼ばれ，ムコ多糖分解酵素のiduronate sulfataseの先天性欠損症である．ムコ多糖が皮膚，骨，軟骨などの結合組織に進行性に蓄積することにより種々の臓器障害をきたし，重症例では18歳頃までに死亡する．症例は26歳，男性．主訴は喘鳴と不眠．4歳時にHunter症候群と診断された．入院2カ月前から自殺念慮を訴え精神科で治療を受けていた．巨 …
- NAID 10018752675
- Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type 2
- Kato Tomomi,Kato Zenichiro,Kuratsubo Izumi [他]
- Journal of Human Genetics 50(8), 395-402, 2005-00-00
- NAID 40006876019
- Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene
Related Links
- i·dur·o·nate sul·fa·tase an enzyme required for the desulfation of 2-sulfate iduronate residues in heparan sulfate. It is also required in dermatan sulfate ... Disclaimer All content on this website, including dictionary, thesaurus, literature ...
- i·dur·o·nate sul·fa·tase an enzyme required for the desulfation of 2-sulfate iduronate residues in heparan sulfate. It is also required in dermatan sulfate ... Hunter syndrome is a lysosomal storage disorder caused by inadequate activity ...
Related Pictures
★リンクテーブル★
[★]
スルファターゼ、サルファターゼ、硫酸エステル加水分解酵素
[★]
- 関
- iduronic、iduronic acid