SUMF2 explained

Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene.^[1]

The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.^[2]

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• 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 .
• Dierks T, Schmidt B, Borissenko LV, etal . Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme . Cell . 113 . 4 . 435–44 . 2003 . 12757705 . 10.1016/S0092-8674(03)00347-7 . 11571659 . free .
• Hillier LW, Fulton RS, Fulton LA, etal . The DNA sequence of human chromosome 7 . Nature . 424 . 6945 . 157–64 . 2003 . 12853948 . 10.1038/nature01782 . 2003Natur.424..157H . free .
• Clark HF, Gurney AL, Abaya E, etal . The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 .
• Landgrebe J, Dierks T, Schmidt B, von Figura K . The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes . Gene . 316 . 47–56 . 2004 . 14563551 . 10.1016/S0378-1119(03)00746-7 .
• Colland F, Jacq X, Trouplin V, etal . Functional Proteomics Mapping of a Human Signaling Pathway . Genome Res. . 14 . 7 . 1324–32 . 2004 . 15231748 . 10.1101/gr.2334104 . 442148 .
• Suzuki Y, Yamashita R, Shirota M, etal . Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions . Genome Res. . 14 . 9 . 1711–8 . 2004 . 15342556 . 10.1101/gr.2435604 . 515316 .
• 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 .
• Dickmanns A, Schmidt B, Rudolph MG, etal . Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme . J. Biol. Chem. . 280 . 15 . 15180–7 . 2005 . 15687489 . 10.1074/jbc.M414317200 . free .
• Mariappan M, Preusser-Kunze A, Balleininger M, etal . Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme . J. Biol. Chem. . 280 . 15 . 15173–9 . 2005 . 15708861 . 10.1074/jbc.M413698200 . free .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Otsuki T, Ota T, Nishikawa T, etal . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .

Notes and References

1. Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A . The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases . Cell . 113 . 4 . 445–56 . May 2003 . 12757706 . 10.1016/S0092-8674(03)00348-9 . 15095377 . free .
2. Web site: Entrez Gene: SUMF2 sulfatase modifying factor 2.