≡

Sulfatase Modifying Factor 1 (SUMF1)

[Edit]

FGE; C-alpha-formylglycine-generating enzyme 1

Sulfatase Modifying Factor 1 (SUMF1)
CCC C879
HGNC 20376
MGI 1889844
PubMed 15146462
RGD 1309939
UniProt Q8NBK3
Wiki SUMF1
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), a lysosomal storage disorder (Roeser et al., 2006).Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC879Hu01 Recombinant Sulfatase Modifying Factor 1 (SUMF1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC879Hu01 Polyclonal Antibody to Sulfatase Modifying Factor 1 (SUMF1) WB; IHC; ICC; IP.
MAC879Hu22 Monoclonal Antibody to Sulfatase Modifying Factor 1 (SUMF1) WB; IHC; ICC; IP.
Assay Kits SEC879Hu ELISA Kit for Sulfatase Modifying Factor 1 (SUMF1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sulfatase Modifying Factor 1 (SUMF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sulfatase Modifying Factor 1 (SUMF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sulfatase Modifying Factor 1 (SUMF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sulfatase Modifying Factor 1 (SUMF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sulfatase Modifying Factor 1 (SUMF1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sulfatase Modifying Factor 1 (SUMF1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sulfatase Modifying Factor 1 (SUMF1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sulfatase Modifying Factor 1 (SUMF1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sulfatase Modifying Factor 1 (SUMF1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sulfatase Modifying Factor 1 (SUMF1) ELISA Kit Customized Service Offer
  1. "Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme."Cell 113:435-444(2003) [PubMed] [Europe PMC] [Abstract]
  2. "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases."Cell 113:445-456(2003) [PubMed] [Europe PMC] [Abstract]
  3. "Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19."Mol. Vis. 15:482-494(2009) [PubMed] [Europe PMC] [Abstract]
  4. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "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. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
  7. "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2."EMBO Rep. 6:655-660(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Molecular characterization of the human Calpha-formylglycine-generating enzyme."J. Biol. Chem. 280:14900-14910(2005) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme."Cell 121:541-552(2005) [PubMed] [Europe PMC] [Abstract]
  12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  13. "A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme."Proc. Natl. Acad. Sci. U.S.A. 103:81-86(2006) [PubMed] [Europe PMC] [Abstract]
  14. "Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency."Hum. Mutat. 23:576-581(2004) [PubMed] [Europe PMC] [Abstract]
  15. "Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency."Hum. Mutat. 29:205-205(2008) [PubMed] [Europe PMC] [Abstract]