PAPSS2 explained

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 is an enzyme that in humans is encoded by the PAPSS2 gene.^{[1] [2]}

Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene.

Further reading

• Ewing RM, Chu P, Elisma F, etal . Large-scale mapping of human protein-protein interactions by mass spectrometry . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Shimizu C, Fuda H, Lee YC, Strott CA . Transcriptional regulation of human 3'-phosphoadenosine 5'-phosphosulphate synthase 2 . Biochem. J. . 363 . Pt 2 . 263–71 . 2002 . 11931653 . 10.1042/0264-6021:3630263 . 1222474 .
• Fuda H, Shimizu C, Lee YC, etal . Characterization and expression of human bifunctional 3'-phosphoadenosine 5'-phosphosulphate synthase isoforms . Biochem. J. . 365 . Pt 2 . 497–504 . 2002 . 11931637 . 10.1042/BJ20020044 . 1222679 .
• Xu ZH, Freimuth RR, Eckloff B, etal . Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes . Pharmacogenetics . 12 . 1 . 11–21 . 2002 . 11773860 . 10.1097/00008571-200201000-00003 .
• Xu Z, Wood TC, Adjei AA, Weinshilboum RM . Human 3'-phosphoadenosine 5'-phosphosulfate synthetase: radiochemical enzymatic assay, biochemical properties, and hepatic variation . Drug Metab. Dispos. . 29 . 2 . 172–8 . 2001 . 11159808 .
• Xu ZH, Otterness DM, Freimuth RR, etal . Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization . Biochem. Biophys. Res. Commun. . 268 . 2 . 437–44 . 2000 . 10679223 . 10.1006/bbrc.2000.2123 .
• Besset S, Vincourt JB, Amalric F, Girard JP . Nuclear localization of PAPS synthetase 1: a sulfate activation pathway in the nucleus of eukaryotic cells . FASEB J. . 14 . 2 . 345–54 . 2000 . 10657990 . 10.1096/fasebj.14.2.345. free . 9024784 .
• Kurima K, Singh B, Schwartz NB . Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2 . J. Biol. Chem. . 274 . 47 . 33306–12 . 1999 . 10559207 . 10.1074/jbc.274.47.33306 . free .
• Ahmad M, Haque MF, Ahmad W, etal . Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred . Am. J. Med. Genet. . 78 . 5 . 468–73 . 1998 . 9714015 . 10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D .
• Kurima K, Warman ML, Krishnan S, etal . A member of a family of sulfate-activating enzymes causes murine brachymorphism . Proc. Natl. Acad. Sci. U.S.A. . 95 . 15 . 8681–5 . 1998 . 9671738 . 10.1073/pnas.95.15.8681 . 21136 . 1998PNAS...95.8681K . free .

Notes and References

1. ul Haque MF, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH . Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse . Nat Genet . 20 . 2 . 157–62 . Oct 1998 . 9771708 . 10.1038/2458 . 13108930 .
2. Web site: Entrez Gene: PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2.