SUMF1

Sulfatase-modifying factor 1 is an enzyme that in humans is encoded by the SUMF1 gene.[5][6][7]

SUMF1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSUMF1, AAPA3037, FGE, UNQ3037, sulfatase modifying factor 1
External IDsOMIM: 607939 MGI: 1889844 HomoloGene: 16268 GeneCards: SUMF1
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p26.1Start3,700,814 bp[1]
End4,467,273 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

285362

58911

Ensembl

ENSG00000144455

ENSMUSG00000030101

UniProt

Q8NBK3

Q8R0F3

RefSeq (mRNA)

NM_001164674
NM_001164675
NM_182760

NM_145937

RefSeq (protein)

NP_001158146
NP_001158147
NP_877437

NP_666049

Location (UCSC)Chr 3: 3.7 – 4.47 MbChr 6: 108.11 – 108.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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][7]

References

  1. GRCh38: Ensembl release 89: ENSG00000144455 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000030101 - 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. 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): 435–444. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705. S2CID 11571659.
  6. 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): 445–456. doi:10.1016/S0092-8674(03)00348-9. PMID 12757706. S2CID 15095377.
  7. "Entrez Gene: SUMF1 sulfatase modifying factor 1".

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.