POGZ

POGZ
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E72, 2N3A
Identifiers
Aliases	POGZ , ZNF280E, ZNF635, ZNF635m, MRD37, WHSUS, pogo transposable element with ZNF domain, pogo transposable element derived with ZNF domain
External IDs	OMIM: 614787; MGI: 2442117; HomoloGene: 9022; GeneCards: POGZ; OMA:POGZ - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q21.3 Start 151,402,724 bp [1] End 151,459,494 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F2.1 Start 94,744,878 bp [2] End 94,789,637 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube right hemisphere of cerebellum buccal mucosa cell sural nerve left ovary pituitary gland right ovary anterior pituitary ganglionic eminence right lobe of thyroid gland Top expressed in tail of embryo Gonadal ridge genital tubercle otic vesicle hand Rostral migratory stream cumulus cell ciliary body primitive streak iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleic acid binding DNA binding protein binding metal ion binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II core promoter sequence-specific DNA binding Cellular component cytoplasm chromosome nucleus nucleoplasm cytosol histone methyltransferase complex Biological process kinetochore assembly cell cycle mitotic sister chromatid cohesion cell division regulation of transcription by RNA polymerase II regulation of gene expression Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23126 229584 Ensembl ENSG00000143442 ENSMUSG00000038902 UniProt Q7Z3K3 Q8BZH4 RefSeq (mRNA) NM_001194937 NM_001194938 NM_015100 NM_145796 NM_207171 NM_001165948 NM_172683 NM_001368811 NM_001368812 RefSeq (protein) NP_001181866 NP_001181867 NP_055915 NP_665739 NP_997054 NP_001159420 NP_766271 NP_001355740 NP_001355741 Location (UCSC) Chr 1: 151.4 – 151.46 Mb Chr 3: 94.74 – 94.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene. ^{[5] [6]}

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. ^[6]

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. ^[7]

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000143442 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038902 – 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. Gunther M, Laithier M, Brison O (Dec 2000). "A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening". Mol Cell Biochem. 210 (1–2): 131–42. doi:10.1023/A:1007177623283. PMID   10976766. S2CID   1339642.
6. "Entrez Gene: POGZ pogo transposable element with ZNF domain".
7. Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD (February 2025). "CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair". Nat Commun. 16 (1): 1714. doi:10.1038/s41467-025-56834-6. PMC   11832927 . PMID   39962076.
8. "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

Further reading

• Ohira M, Morohashi A, Nakamura Y, et al. (2003). "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma". Cancer Lett. 197 (1–2): 63–8. doi:10.1016/S0304-3835(03)00085-5. PMID   12880961.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• 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.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• 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.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "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. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi: 10.1093/dnares/4.5.345 . PMID   9455484.