SUMF2

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Sulfatase modifying factor 2
PDB rendering based on 1y4j.
Available structures: 1y4j
Identifiers
Symbol(s) SUMF2; DKFZp566I1024; DKFZp66I1024; DKFZp686L17160; DKFZp781L1035; MGC99485; pFGE
External IDs OMIM: 607940 MGI: 1915152 HomoloGene: 41037
Orthologs
Human Mouse
Entrez 25870 67902
Ensembl ENSG00000129103 ENSMUSG00000025538
Uniprot Q8NBJ7 Q0VDW5
Refseq NM_001042468 (mRNA)
NP_001035933 (protein)		 XM_974746 (mRNA)
XP_979840 (protein)
Location Chr 7: 56.1 - 56.12 Mb Chr 5: 130.13 - 130.15 Mb
Pubmed search [1] [2]

Sulfatase modifying factor 2, also known as SUMF2, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: SUMF2 sulfatase modifying factor 2.

[edit] Further reading

  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Dierks T, Schmidt B, Borissenko LV, et al. (2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.". Cell 113 (4): 435–44. PMID 12757705. 
  • Cosma MP, Pepe S, Annunziata I, et al. (2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.". Cell 113 (4): 445–56. PMID 12757706. 
  • Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309. 
  • Landgrebe J, Dierks T, Schmidt B, von Figura K (2004). "The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.". Gene 316: 47–56. PMID 14563551. 
  • Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMID 15231748. 
  • Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMID 15342556. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Dickmanns A, Schmidt B, Rudolph MG, et al. (2005). "Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme.". J. Biol. Chem. 280 (15): 15180–7. doi:10.1074/jbc.M414317200. PMID 15687489. 
  • Mariappan M, Preusser-Kunze A, Balleininger M, et al. (2005). "Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.". J. Biol. Chem. 280 (15): 15173–9. doi:10.1074/jbc.M413698200. PMID 15708861. 
  • Zito E, Fraldi A, Pepe S, et al. (2005). "Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.". EMBO Rep. 6 (7): 655–60. doi:10.1038/sj.embor.7400454. PMID 15962010. 
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
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