POGZ

POGZ
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
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2E72, 2N3A
Gene location (Human)
Chr.	Chromosome 1 (human)
End	151,459,494 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	94,789,637 bp
RNA expression pattern
	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
	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
	23126
	229584
	ENSG00000143442
	ENSMUSG00000038902
	Q7Z3K3
	Q8BZH4
	NM_001194937; NM_001194938; NM_015100; NM_145796; NM_207171
	NM_001165948; NM_172683; NM_001368811; NM_001368812
	NP_001181866; NP_001181867; NP_055915; NP_665739; NP_997054
	NP_001159420; NP_766271; NP_001355740; NP_001355741
	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 2 3 GRCh38: Ensembl release 89: ENSG00000143442 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038902 – 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.
↑ 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.
1 2 "Entrez Gene: POGZ pogo transposable element with ZNF domain".
↑ 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.
↑ "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000143442 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid10976766-5] 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.

[entrez-6] 1 2 "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.

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POGZ

Clinical significance

References

Further reading