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{{Infobox_gene}}
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'''Sulfatase-modifying factor 1''' is an [[enzyme]] that in humans is encoded by the ''SUMF1'' [[gene]].<ref name="pmid12757705">{{cite journal | vauthors = Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K | 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 |date=May 2003 | pmid = 12757705 | pmc =  | doi =10.1016/S0092-8674(03)00347-7 }}</ref><ref name="pmid12757706">{{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 | pmc =  | doi =10.1016/S0092-8674(03)00348-9 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SUMF1 sulfatase modifying factor 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=285362| accessdate = }}</ref>
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{{GNF_Protein_box
| image = PBB_Protein_SUMF1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1y1e.
| PDB = {{PDB2|1y1e}}, {{PDB2|1y1f}}, {{PDB2|1y1g}}, {{PDB2|1y1h}}, {{PDB2|1y1i}}, {{PDB2|1y1j}}, {{PDB2|1z70}}, {{PDB2|2aft}}, {{PDB2|2afy}}, {{PDB2|2aii}}, {{PDB2|2aij}}, {{PDB2|2aik}}, {{PDB2|2hi8}}, {{PDB2|2hib}}
| Name = Sulfatase modifying factor 1
| HGNCid = 20376
| Symbol = SUMF1
| AltSymbols =; FGE; MGC131853; MGC150436
| OMIM = 607939
| ECnumber =
| Homologene = 16268
  | MGIid = 1889844
  | Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}  
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0030203 |text = glycosaminoglycan metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 285362
    | Hs_Ensembl = ENSG00000144455
    | Hs_RefseqProtein = NP_877437
    | Hs_RefseqmRNA = NM_182760
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 3844104
    | Hs_GenLoc_end = 4483948
    | Hs_Uniprot = Q8NBK3
    | Mm_EntrezGene = 58911
    | Mm_Ensembl = ENSMUSG00000030101
    | Mm_RefseqmRNA = NM_145937
    | Mm_RefseqProtein = NP_666049
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 108072805
    | Mm_GenLoc_end = 108151357
    | Mm_Uniprot = Q3TTT6
  }}
}}
'''Sulfatase modifying factor 1''', also known as '''SUMF1''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| 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]<ref name="entrez">{{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 = }}</ref>
| summary_text = Sulfatases catalyze the hydrolysis of [[sulfate ester]]s such as [[glycosaminoglycan]]s, [[sulfolipid]]s, and [[steroid sulfate]]s. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the human form of the aerobic [[Formylglycine-generating enzyme]] (FGE), in the endoplasmic reticulum (ER). The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in inactive FGE, and subsequently [[multiple sulfatase deficiency]] (MSD; MIM 272200), a lysosomal storage disorder (Roeser et al., 2006).[supplied by OMIM]<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| 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   |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 }}
*{{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   |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 | 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   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |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=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   |vauthors=Cosma MP, Pepe S, Parenti G, etal |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=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   |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 | 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   |vauthors=Preusser-Kunze A, Mariappan M, Schmidt B, etal |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=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   |vauthors=Dierks T, Dickmanns A, Preusser-Kunze A, etal |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=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   |vauthors=Zito E, Fraldi A, Pepe S, etal |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 | pmc=1369113 }}
*{{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   |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 }}
*{{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   |vauthors=Roeser D, Preusser-Kunze A, Schmidt B, etal |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 | pmc=1324989 }}
*{{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   |vauthors=Fraldi A, Biffi A, Lombardi A, etal |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 | pmc=1874239 }}
*{{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   |vauthors=Zito E, Buono M, Pepe S, etal |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 | pmc=1868907 }}
*{{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   |vauthors=Annunziata I, Bouchè V, Lombardi A, etal |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 }}
*{{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 }}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=285362}}
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{{Glycolipid/sphingolipid metabolism enzymes}}


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{{gene-3-stub}}
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Latest revision as of 07:17, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Sulfatase-modifying factor 1 is an enzyme that in humans is encoded by the SUMF1 gene.[1][2][3]

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 human form of the aerobic Formylglycine-generating enzyme (FGE), in the endoplasmic reticulum (ER). The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in inactive FGE, and subsequently multiple sulfatase deficiency (MSD; MIM 272200), a lysosomal storage disorder (Roeser et al., 2006).[supplied by OMIM][3]

References

  1. ↑ Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell. 113 (4): 435–44. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705.
  2. ↑ Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (May 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell. 113 (4): 445–56. doi:10.1016/S0092-8674(03)00348-9. PMID 12757706.
  3. ↑ 3.0 3.1 "Entrez Gene: SUMF1 sulfatase modifying factor 1".

Further reading



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