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POGZ

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.{{cite journal | vauthors = Gunther M, Laithier M, Brison O | title = A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening | journal = Mol Cell Biochem | volume = 210 | issue = 1–2 | pages = 131–42 |date=Dec 2000 | pmid = 10976766 | doi =10.1023/A:1007177623283 | s2cid = 1339642 }}{{cite web | title = Entrez Gene: POGZ pogo transposable element with ZNF domain| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23126}}

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.

The CHAMP1 protein complex consisting of CHAMP1, POGZ and HPIα promotes heterochromatin assembly at multiple chromosomal sites, and also promotes homology-directed DNA repair of DNA double-strand breaks in these regions.{{cite journal |vauthors=Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD |title=CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair |journal=Nat Commun |volume=16 |issue=1 |pages=1714 |date=February 2025 |pmid=39962076 |pmc=11832927 |doi=10.1038/s41467-025-56834-6 |url=}}

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.{{Cite web|url=https://www.omim.org/entry/616364|title=OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS|website=www.omim.org|language=en-us|access-date=2018-11-23}}

References

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Further reading

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  • {{cite journal |vauthors=Ohira M, Morohashi A, Nakamura Y, etal |title=Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. |journal=Cancer Lett. |volume=197 |issue= 1–2 |pages= 63–8 |year= 2003 |pmid= 12880961 |doi=10.1016/S0304-3835(03)00085-5 }}
  • {{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |s2cid=7827573 |doi-access=free }}
  • {{cite journal |vauthors=Gregory SG, Barlow KF, McLay KE, etal |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |bibcode=2006Natur.441..315G |doi-access= free }}
  • {{cite journal |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
  • {{cite journal |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D, etal |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 |bibcode=2004PNAS..10112130B |doi-access=free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Wiemann S, Weil B, Wellenreuther R, etal |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 }}
  • {{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}
  • {{cite journal |vauthors=Seki N, Ohira M, Nagase T, etal |title=Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. |journal=DNA Res. |volume=4 |issue= 5 |pages= 345–9 |year= 1998 |pmid= 9455484 |doi=10.1093/dnares/4.5.345 |doi-access=free }}

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