Steroid sulfatase

From Wikipedia, the free encyclopedia
Steroid sulfatase (microsomal), isozyme S

PDB rendering based on 1p49.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsSTS; ARSC; ARSC1; ASC; ES; SSDD; XLI
External IDsOMIM: 300747 HomoloGene: 47918 ChEMBL: 3559 GeneCards: STS Gene
EC number3.1.6.2
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez412n/a
EnsemblENSG00000101846n/a
UniProtP08842n/a
RefSeq (mRNA)NM_000351n/a
RefSeq (protein)NP_000342n/a
Location (UCSC)Chr X:
7.14 – 7.27 Mb		n/a
PubMed searchn/a
This box:

Steroid sulfatase (or steryl-sulfatase), formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids. It is encoded by the STS gene.[1]

Function

The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to the free steroid. This includes sulfated androgens and sulfated estrogens. The encoded protein is found in the endoplasmic reticulum, where it is present as a homodimer.[1]

Clinical significance

A deficiency is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000-6,000 males.[2][3]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: STS steroid sulfatase (microsomal), arylsulfatase C, isozyme S". 
  2. ↑ Alperin ES, Shapiro LJ (August 1997). "Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein". J. Biol. Chem. 272 (33): 20756–63. doi:10.1074/jbc.272.33.20756. PMID 9252398. 
  3. ↑ Ghosh D (December 2004). "Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase". Biochim. Biophys. Acta 1739 (1): 1–4. doi:10.1016/j.bbadis.2004.09.003. PMID 15607112. 

Further reading

  • Elias PM, Crumrine D, Rassner U, et al. (2004). "Basis for abnormal desquamation and permeability barrier dysfunction in RXLI.". J. Invest. Dermatol. 122 (2): 314–9. doi:10.1046/j.1523-1747.2003.22258.x. PMID 15009711. 
  • Basler E, Grompe M, Parenti G, et al. (1992). "Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.". Am. J. Hum. Genet. 50 (3): 483–91. PMC 1684279. PMID 1539590. 
  • Shankaran R, Ameen M, Daniel WL, et al. (1991). "Characterization of arylsulfatase C isozymes from human liver and placenta.". Biochim. Biophys. Acta 1078 (2): 251–7. doi:10.1016/0167-4838(91)90566-I. PMID 2065092. 
  • Stein C, Hille A, Seidel J, et al. (1989). "Cloning and expression of human steroid-sulfatase. Membrane topology, glycosylation, and subcellular distribution in BHK-21 cells.". J. Biol. Chem. 264 (23): 13865–72. PMID 2668275. 
  • Kawano J, Kotani T, Ohtaki S, et al. (1989). "Characterization of rat and human steroid sulfatases.". Biochim. Biophys. Acta 997 (3): 199–205. doi:10.1016/0167-4838(89)90187-8. PMID 2765556. 
  • Yen PH, Allen E, Marsh B, et al. (1987). "Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.". Cell 49 (4): 443–54. doi:10.1016/0092-8674(87)90447-8. PMID 3032454. 
  • Conary JT, Lorkowski G, Schmidt B, et al. (1987). "Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase.". Biochem. Biophys. Res. Commun. 144 (2): 1010–7. doi:10.1016/S0006-291X(87)80064-5. PMID 3034252. 
  • Ballabio A, Parenti G, Carrozzo R, et al. (1988). "X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.". Clin. Genet. 34 (1): 31–7. doi:10.1111/j.1399-0004.1988.tb02612.x. PMID 3165728. 
  • Yen PH, Marsh B, Allen E, et al. (1989). "The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution.". Cell 55 (6): 1123–35. doi:10.1016/0092-8674(88)90257-7. PMID 3203382. 
  • Chang PL, Varey PA, Rosa NE, et al. (1986). "Association of steroid sulfatase with one of the arylsulfatase C isozymes in human fibroblasts.". J. Biol. Chem. 261 (31): 14443–7. PMID 3464600. 
  • Munroe DG, Chang PL (1987). "Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase.". Am. J. Hum. Genet. 40 (2): 102–14. PMC 1684069. PMID 3471087. 
  • Müller CR, Wahlström J, Ropers HH (1982). "Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp.". Hum. Genet. 58 (4): 446. PMID 6948769. 
  • Migeon BR, Shapiro LJ, Norum RA, et al. (1982). "Differential expression of steroid sulphatase locus on active and inactive human X chromosome.". Nature 299 (5886): 838–40. doi:10.1038/299838a0. PMID 6957717. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Alperin ES, Shapiro LJ (1997). "Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.". J. Biol. Chem. 272 (33): 20756–63. doi:10.1074/jbc.272.33.20756. PMID 9252398. 
  • Sugawara T, Shimizu H, Hoshi N, et al. (2000). "PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.". Hum. Mutat. 15 (3): 296. doi:10.1002/(SICI)1098-1004(200003)15:3<296::AID-HUMU17>3.0.CO;2-#. PMID 10679952. 
  • Oyama N, Satoh M, Iwatsuki K, Kaneko F (2000). "Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.". J. Invest. Dermatol. 114 (6): 1195–9. doi:10.1046/j.1523-1747.2000.00004.x. PMID 10844566. 
  • Jimenez Vaca AL, Valdes-Flores Mdel R, Rivera-Vega MR, et al. (2002). "Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population.". Mol. Med. 7 (12): 845–9. PMC 1950010. PMID 11844872. 
  • Hoffmann R, Rot A, Niiyama S, Billich A (2002). "Steroid sulfatase in the human hair follicle concentrates in the dermal papilla.". J. Invest. Dermatol. 117 (6): 1342–8. doi:10.1046/j.0022-202x.2001.01547.x. PMID 11886493. 
  • Matsuoka R, Yanaihara A, Saito H, et al. (2002). "Regulation of estrogen activity in human endometrium: effect of IL-1beta on steroid sulfatase activity in human endometrial stromal cells.". Steroids 67 (7): 655–9. doi:10.1016/S0039-128X(02)00016-8. PMID 11996939. 

External links

3.1.1: Carboxylic ester hydrolases
3.1.2: Thioesterase
3.1.3: Phosphatase
3.1.4: Phosphodiesterase
3.1.6: Sulfatase
Nuclease (includes
deoxyribonuclease and
ribonuclease)
3.1.11-16: Exonuclease
Exodeoxyribonuclease
Exoribonuclease
3.1.21-31: Endonuclease
Endodeoxyribonuclease
Endoribonuclease
either deoxy- or ribo-
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Metabolism: lipid metabolism – ketones/cholesterol synthesis enzymes/steroid metabolism
Mevalonate pathway
To HMG-CoA
Ketogenesis
To Mevalonic acid
To DMAPP
Geranyl-
To cholesterol
To lanosterol
7-Dehydrocholesterol path
Desmosterol path
To Bile acids
Steroidogenesis
To pregnenolone
To corticosteroids
To sex hormones
To androgens
To estrogens
Other/ungrouped

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)

M: END

anat/phys/devp/horm

noco (d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

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