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SUMF2

From Wikipedia, the free encyclopedia
SUMF2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSUMF2, pFGE, sulfatase modifying factor 2
External IDsOMIM: 607940; MGI: 1915152; HomoloGene: 41037; GeneCards: SUMF2; OMA:SUMF2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_026445

RefSeq (protein)

NP_080721

Location (UCSC)Chr 7: 56.06 – 56.08 MbChr 5: 129.85 – 129.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene.[5][6]

The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129103Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025538Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 15095377.
  6. ^ a b "Entrez Gene: SUMF2 sulfatase modifying factor 2".

Further reading

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