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SUMF2

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene.{{cite journal | vauthors = Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A | 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 |date=May 2003 | pmid = 12757706 | doi =10.1016/S0092-8674(03)00348-9 | s2cid = 15095377 | doi-access = free }}

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.{{cite web | title = Entrez Gene: SUMF2 sulfatase modifying factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25870}}

References

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Further reading

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  • {{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 |doi-access=free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Dierks T, Schmidt B, Borissenko LV, etal |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=10.1016/S0092-8674(03)00347-7 |s2cid=11571659 |doi-access=free }}
  • {{cite journal |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 |bibcode=2003Natur.424..157H |doi-access= free }}
  • {{cite journal |vauthors=Clark HF, Gurney AL, Abaya E, etal |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 | pmc=403697 }}
  • {{cite journal | vauthors=Landgrebe J, Dierks T, Schmidt B, von Figura K |title=The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes |journal=Gene |volume=316 |pages= 47–56 |year= 2004 |pmid= 14563551 |doi=10.1016/S0378-1119(03)00746-7 }}
  • {{cite journal |vauthors=Colland F, Jacq X, Trouplin V, etal |title=Functional Proteomics Mapping of a Human Signaling Pathway |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 | pmc=442148 }}
  • {{cite journal |vauthors=Suzuki Y, Yamashita R, Shirota M, etal |title=Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 | pmc=515316 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |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 | pmc=528928 }}
  • {{cite journal |vauthors=Dickmanns A, Schmidt B, Rudolph MG, etal |title=Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme |journal=J. Biol. Chem. |volume=280 |issue= 15 |pages= 15180–7 |year= 2005 |pmid= 15687489 |doi= 10.1074/jbc.M414317200 |doi-access= free }}
  • {{cite journal |vauthors=Mariappan M, Preusser-Kunze A, Balleininger M, etal |title=Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme |journal=J. Biol. Chem. |volume=280 |issue= 15 |pages= 15173–9 |year= 2005 |pmid= 15708861 |doi= 10.1074/jbc.M413698200 |doi-access= free }}
  • {{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |bibcode=2005Natur.437.1173R |s2cid=4427026 }}
  • {{cite journal |vauthors=Otsuki T, Ota T, Nishikawa T, etal |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 |doi-access= free }}
  • {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}

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