sulfatase-modifying factor 1; C-alpha-formyglycine-generating enzyme 1 (SUMF1, FGE, PSEC0152, UNQ3037/PRO9852)

Function

• converts newly synthesized inactive sulfatases to their active form by modifying an active site Cys to 3-oxoalanine
  • uses O2 & an unidentified reducing agent
• known substrates include GALNS, ARSA, STS & ARSE
• 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

More general terms

• glycoprotein
• Ca+2 binding protein
• human longevity protein

Additional terms

• sulfatase-modifying factor 2 (C-alpha-formyglycine-generating enzyme 2, SUMF2)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=285362
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:285362
• OMIM: https://mirror.omim.org/entry/272200
• OMIM: https://mirror.omim.org/entry/607939
• UniProt: http://www.uniprot.org/uniprot/Q8NBK3.html