SUMF1

Sulfatase modifying factor 1
File:PBB Protein SUMF1 image.jpg PDB rendering based on 1y1e.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1y1e​, 1y1f​, 1y1g​, 1y1h​, 1y1i​, 1y1j​, 1z70​, 2aft​, 2afy​, 2aii​, 2aij​, 2aik​, 2hi8​, 2hib​
Identifiers
Symbols	SUMF1 ; FGE; MGC131853; MGC150436
External IDs	Template:OMIM5 Template:MGI HomoloGene: 16268
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Sulfatase modifying factor 1, also known as SUMF1, is a human gene.

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]

Further reading

• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dierks T, Schmidt B, Borissenko LV; et al. (2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell. 113 (4): 435–44. PMID 12757705.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cosma MP, Pepe S, Annunziata I; et al. (2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell. 113 (4): 445–56. PMID 12757706.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clark HF, Gurney AL, Abaya E; et al. (2003). "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. doi:10.1101/gr.1293003. PMID 12975309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cosma MP, Pepe S, Parenti G; et al. (2004). "Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency". Hum. Mutat. 23 (6): 576–81. doi:10.1002/humu.20040. PMID 15146462.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Preusser-Kunze A, Mariappan M, Schmidt B; et al. (2005). "Molecular characterization of the human Calpha-formylglycine-generating enzyme". J. Biol. Chem. 280 (15): 14900–10. doi:10.1074/jbc.M413383200. PMID 15657036.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dierks T, Dickmanns A, Preusser-Kunze A; et al. (2005). "Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme". Cell. 121 (4): 541–52. doi:10.1016/j.cell.2005.03.001. PMID 15907468.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zito E, Fraldi A, Pepe S; et al. (2005). "Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2". EMBO Rep. 6 (7): 655–60. doi:10.1038/sj.embor.7400454. PMID 15962010.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Otsuki T, Ota T, Nishikawa T; et al. (2007). "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. doi:10.1093/dnares/12.2.117. PMID 16303743.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roeser D, Preusser-Kunze A, Schmidt B; et al. (2006). "A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme". Proc. Natl. Acad. Sci. U.S.A. 103 (1): 81–6. doi:10.1073/pnas.0507592102. PMID 16368756.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fraldi A, Biffi A, Lombardi A; et al. (2007). "SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies". Biochem. J. 403 (2): 305–12. doi:10.1042/BJ20061783. PMID 17206939.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zito E, Buono M, Pepe S; et al. (2007). "Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum". EMBO J. 26 (10): 2443–53. doi:10.1038/sj.emboj.7601695. PMID 17446859.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Annunziata I, Bouchè V, Lombardi A; et al. (2007). "Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene". Hum. Mutat. 28 (9): 928. doi:10.1002/humu.9504. PMID 17657823.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)