SUMF1

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SUMF1
Protein SUMF1 PDB 1y1e.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SUMF1, AAPA3037, FGE, UNQ3037, sulfatase modifying factor 1
External IDs MGI: 1889844 HomoloGene: 16268 GeneCards: SUMF1
Genetically Related Diseases
multiple sclerosis[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001164674
NM_001164675
NM_182760

NM_145937

RefSeq (protein)

NP_001158146
NP_001158147
NP_877437

NP_666049.2
NP_666049

Location (UCSC) Chr 3: 3.7 – 4.47 Mb Chr 6: 108.11 – 108.19 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Sulfatase-modifying factor 1 is an enzyme that in humans is encoded by the SUMF1 gene.[4][5][6]

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][6]

References[edit]

  1. ^ "Diseases that are genetically associated with SUMF1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: SUMF1 sulfatase modifying factor 1". 

Further reading[edit]