JAZF1 explained

Juxtaposed with another zinc finger protein 1 (JAZF1) also known as TAK1-interacting protein 27 (TIP27) or zinc finger protein 802 (ZNF802) is a protein that in humans is encoded by the JAZF1 gene.^{[1] [2]} Variants are associated with an increased risk of prostate cancer, an increased risk of type 2 diabetes, and an increased height.^[3]

Function

This gene encodes a nuclear protein with three C₂H₂-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized

Further reading

• Koontz JI, Soreng AL, Nucci M, etal . Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors . Proc. Natl. Acad. Sci. U.S.A. . 98 . 11 . 6348–53 . 2001 . 11371647 . 10.1073/pnas.101132598 . 33471 . 2001PNAS...98.6348K . 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 .
• Scherer SW, Cheung J, MacDonald JR, etal . Human Chromosome 7: DNA Sequence and Biology . Science . 300 . 5620 . 767–72 . 2003 . 12690205 . 10.1126/science.1083423 . 2882961 . 2003Sci...300..767S .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Huang HY, Ladanyi M, Soslow RA . Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity . Am. J. Surg. Pathol. . 28 . 2 . 224–32 . 2004 . 15043312 . 10.1097/00000478-200402000-00010 . 21043514 .
• Nakajima T, Fujino S, Nakanishi G, etal . TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4 . Nucleic Acids Res. . 32 . 14 . 4194–204 . 2004 . 15302918 . 10.1093/nar/gkh741 . 514368 .
• 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 .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Micci F, Panagopoulos I, Bjerkehagen B, Heim S . Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma . Cancer Res. . 66 . 1 . 107–12 . 2006 . 16397222 . 10.1158/0008-5472.CAN-05-2485 . free .
• Nucci MR, Harburger D, Koontz J, etal . Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms . Am. J. Surg. Pathol. . 31 . 1 . 65–70 . 2007 . 17197920 . 10.1097/01.pas.0000213327.86992.d1 . 36622314 .
• Oliva E, de Leval L, Soslow RA, Herens C . High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection . Am. J. Surg. Pathol. . 31 . 8 . 1277–84 . 2007 . 17667554 . 10.1097/PAS.0b013e318031f012 . 37204785 .

Notes and References

1. Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC . Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library . Nat Genet . 4 . 4 . 373–80 . Nov 1993 . 8401585 . 10.1038/ng0893-373 . 12612300 .
2. Web site: Entrez Gene: JAZF1 JAZF zinc finger 1.
3. Manolio TA . Guttmacher . Alan E. . Manolio . Teri A. . Genomewide Association Studies and Assessment of the Risk of Disease . N Engl J Med . July 2010 . 363 . 2 . 20647212 . 166–176 . 10.1056/NEJMra0905980 . free .