SUMF1

Sulfatase modifying factor 1, also known as SUMF1, is a human gene.cite web | title = Entrez Gene: SUMF1 sulfatase modifying factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=285362| accessdate = ]

PBB_Summary
section_title =
summary_text = Sulfatases catalyze the hydrolysis of sulfate esters such as glycosaminoglycans, sulfolipids, and steroid sulfates. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the FGly-generating enzyme (FGE), in the endoplasmic reticulum (ER). The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in multiple sulfatase deficiency (MSD; MIM 272200), a lysosomal storage disorder (Roeser et al., 2006). [supplied by OMIM] cite web | title = Entrez Gene: SUMF1 sulfatase modifying factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=285362| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Dierks T, Schmidt B, Borissenko LV, "et al." |title=Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. |journal=Cell |volume=113 |issue= 4 |pages= 435–44 |year= 2003 |pmid= 12757705 |doi=
*cite journal | author=Cosma MP, Pepe S, Annunziata I, "et al." |title=The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. |journal=Cell |volume=113 |issue= 4 |pages= 445–56 |year= 2003 |pmid= 12757706 |doi=
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Cosma MP, Pepe S, Parenti G, "et al." |title=Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. |journal=Hum. Mutat. |volume=23 |issue= 6 |pages= 576–81 |year= 2004 |pmid= 15146462 |doi= 10.1002/humu.20040
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Preusser-Kunze A, Mariappan M, Schmidt B, "et al." |title=Molecular characterization of the human Calpha-formylglycine-generating enzyme. |journal=J. Biol. Chem. |volume=280 |issue= 15 |pages= 14900–10 |year= 2005 |pmid= 15657036 |doi= 10.1074/jbc.M413383200
*cite journal | author=Dierks T, Dickmanns A, Preusser-Kunze A, "et al." |title=Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. |journal=Cell |volume=121 |issue= 4 |pages= 541–52 |year= 2005 |pmid= 15907468 |doi= 10.1016/j.cell.2005.03.001
*cite journal | author=Zito E, Fraldi A, Pepe S, "et al." |title=Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. |journal=EMBO Rep. |volume=6 |issue= 7 |pages= 655–60 |year= 2005 |pmid= 15962010 |doi= 10.1038/sj.embor.7400454
*cite journal | author=Otsuki T, Ota T, Nishikawa T, "et al." |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117
*cite journal | author=Roeser D, Preusser-Kunze A, Schmidt B, "et al." |title=A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 1 |pages= 81–6 |year= 2006 |pmid= 16368756 |doi= 10.1073/pnas.0507592102
*cite journal | author=Fraldi A, Biffi A, Lombardi A, "et al." |title=SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. |journal=Biochem. J. |volume=403 |issue= 2 |pages= 305–12 |year= 2007 |pmid= 17206939 |doi= 10.1042/BJ20061783
*cite journal | author=Zito E, Buono M, Pepe S, "et al." |title=Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. |journal=EMBO J. |volume=26 |issue= 10 |pages= 2443–53 |year= 2007 |pmid= 17446859 |doi= 10.1038/sj.emboj.7601695
*cite journal | author=Annunziata I, Bouchè V, Lombardi A, "et al." |title=Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. |journal=Hum. Mutat. |volume=28 |issue= 9 |pages= 928 |year= 2007 |pmid= 17657823 |doi= 10.1002/humu.9504

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