SUMF2

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SUMF2
Protein SUMF2 PDB 1y4j.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SUMF2 , pFGE, sulfatase modifying factor 2
External IDs OMIM: 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 Mb Chr 5: 129.85 – 129.86 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000129103 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025538 Ensembl, 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. 1 2 "Entrez Gene: SUMF2 sulfatase modifying factor 2".

Further reading