POGZ explained

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.^{[1] [2]}

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus.

This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.^[3]

Further reading

• Ohira M, Morohashi A, Nakamura Y, etal . Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. . Cancer Lett. . 197 . 1–2 . 63–8 . 2003 . 12880961 . 10.1016/S0304-3835(03)00085-5 .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Gregory SG, Barlow KF, McLay KE, etal . The DNA sequence and biological annotation of human chromosome 1. . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . free .
• Mehrle A, Rosenfelder H, Schupp I, etal . The LIFEdb database in 2006. . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 .
• Wiemann S, Arlt D, Huber W, etal . From ORFeome to biology: a functional genomics pipeline. . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Beausoleil SA, Jedrychowski M, Schwartz D, etal . Large-scale characterization of HeLa cell nuclear phosphoproteins. . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . 2004PNAS..10112130B . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Wiemann S, Weil B, Wellenreuther R, etal . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 .
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination. . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Seki N, Ohira M, Nagase T, etal . Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. . DNA Res. . 4 . 5 . 345–9 . 1998 . 9455484 . 10.1093/dnares/4.5.345 . free .

Notes and References

1. Gunther M, Laithier M, Brison O . A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening . Mol Cell Biochem . 210 . 1–2 . 131–42 . Dec 2000 . 10976766 . 10.1023/A:1007177623283 . 1339642 .
2. Web site: Entrez Gene: POGZ pogo transposable element with ZNF domain.
3. Web site: OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS. www.omim.org. en-us. 2018-11-23.