SUMF1

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Sulfatase modifying factor 1
PDB rendering based on 1y1e.
Available structures: 1y1e, 1y1f, 1y1g, 1y1h, 1y1i, 1y1j, 1z70, 2aft, 2afy, 2aii, 2aij, 2aik, 2hi8, 2hib
Identifiers
Symbol(s) SUMF1; FGE; MGC131853; MGC150436
External IDs OMIM: 607939 MGI: 1889844 HomoloGene: 16268
Orthologs
Human Mouse
Entrez 285362 58911
Ensembl ENSG00000144455 ENSMUSG00000030101
Uniprot Q8NBK3 Q3TTT6
Refseq NM_182760 (mRNA)
NP_877437 (protein)		 NM_145937 (mRNA)
NP_666049 (protein)
Location Chr 3: 3.84 - 4.48 Mb Chr 6: 108.07 - 108.15 Mb
Pubmed search [1] [2]

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

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][1]

[edit] References

  1. ^ a b Entrez Gene: SUMF1 sulfatase modifying factor 1.

[edit] 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
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