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sulfatase-modifying factor 1; C-alpha-formyglycine-generating enzyme 1 (SUMF1, FGE, PSEC0152, UNQ3037/PRO9852)
Function:
1) converts newly synthesized inactive sulfatases to their active form by modifying an active site Cys to 3-oxoalanine
- uses O2 & an unidentified reducing agent
2) known substrates include GALNS, ARSA, STS & ARSE
3) monomer, homodimer & heterodimer with SUMF2
[sulfatase]-cysteine + acceptor = [sulfatase]-3-oxoalanine + reduced acceptor
Structure:
- monomer, 15% may exist as disulfide-linked homodimer
- N-glycosylated, contains high-mannose-type oligosaccharides
- belongs to the sulfatase-modifying factor family
Compartment: endoplasmic reticulum lumen
Alternative splicing: named isoforms=5
Expression:
- ubiquitous
- expressed in kidney, pancreas, liver > leukocytes, lung, placenta, small intestine, skeletal muscle, heart
Pathology: -defects in SUMF1 are the cause of multiple sulfatase deficiency
Related
sulfatase-modifying factor 2 (C-alpha-formyglycine-generating enzyme 2, SUMF2)
General
Ca+2 binding protein
glycoprotein
human longevity protein
Properties
SIZE: MW = 41 kD
entity length = 374 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: signal sequence {1-33}
cysteine residue {C50}
MODIFICATION: cysteine residue {CPARTIAL, AND INTERCHAIN}
Ca+2-binding site
SITE: 130-130
N-glycosylation site {N141}
cysteine residue {C218}
MODIFICATION: cysteine residue {C365}
cysteine residue {C235}
MODIFICATION: cysteine residue {C346}
Ca+2-binding site
SITE: 259-259
Ca+2-binding site
SITE: 260-260
Ca+2-binding site
SITE: 273-273
Ca+2-binding site
SITE: 275-275
Ca+2-binding site
SITE: 293-293
Ca+2-binding site
SITE: 296-296
Ca+2-binding site
SITE: 298-298
Ca+2-binding site
SITE: 300-300
serine residue {S333}
cysteine residue {C336}
MODIFICATION: cysteine residue {C341}
sulfatases interaction {341-360}
MOTIF: cysteine residue {C341}
MODIFICATION: cysteine residue {C336}
cysteine residue {C346}
MODIFICATION: cysteine residue {C235}
cysteine residue {C365}
MODIFICATION: cysteine residue {C218}
Database Correlations
OMIM correlations
UniProt Q8NBK3
Pfam PF03781
Entrez Gene 285362
Kegg hsa:285362
References
- UniProt :accession Q8NBK3
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SUMF1
- UniProt PubMed refs
- PMID: 15657036
- PMID: 19159218
- PMID: 16368756
- PMID: 12757706
- PMID: 757706