POGZ

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

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
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 94,837,567 bp[2] End 94,882,326 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleic acid binding • DNA binding • GO:0001948 protein binding • metal ion binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • RNA polymerase II core promoter sequence-specific DNA binding Cellular component • cytoplasm • chromosome • nuclear chromatin • cell nucleus • nucleoplasm • cytosol • histone methyltransferase complex Biological process • kinetochore assembly • cell cycle • mitotic sister chromatid cohesion • cell division • regulation of transcription from RNA polymerase II promoter • 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: 94.84 – 94.88 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.[7]

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.
6. "Entrez Gene: POGZ pogo transposable element with ZNF domain".
7. "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.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. 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. 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. 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.