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Protein-coding gene in the species Homo sapiens
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 [ edit ]
^ a b c GRCh38: Ensembl release 89: ENSG00000129103 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025538 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ a b "Entrez Gene: SUMF2 sulfatase modifying factor 2" .
Further reading [ edit ]
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 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. doi :10.1016/S0092-8674(03)00347-7 PMID 12757705 . S2CID 11571659 . Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7" . Nature . 424 (6945): 157–64. Bibcode :2003Natur.424..157H . 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 . PMC 403697 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. doi :10.1016/S0378-1119(03)00746-7 . 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 . PMC 442148 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 . PMC 515316 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 . PMC 528928 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 . PMC 1369113 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. Bibcode :2005Natur.437.1173R . doi :10.1038/nature04209 . PMID 16189514 . S2CID 4427026 . 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 . PMC 1356129 PMID 16344560 .
