JAZF1

From Wikipedia, the free encyclopedia


JAZF zinc finger 1
Identifiers
Symbol(s) JAZF1; DKFZp761K2222; TIP27; ZNF802
External IDs OMIM: 606246 MGI2141450 HomoloGene18291
Orthologs
Human Mouse
Entrez 221895 231986
Ensembl ENSG00000153814 ENSMUSG00000063568
Uniprot Q86VZ6 Q80ZQ5
Refseq NM_175061 (mRNA)
NP_778231 (protein)
NM_173406 (mRNA)
NP_775582 (protein)
Location Chr 7: 27.84 - 28.19 Mb Chr 6: 52.7 - 53 Mb
Pubmed search [1] [2]

JAZF zinc finger 1, also known as JAZF1, is a human gene.[1]

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[1]

[edit] References

[edit] Further reading

  • Adams MD, Soares MB, Kerlavage AR, et al. (1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library.". Nat. Genet. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID 8401585. 
  • Koontz JI, Soreng AL, Nucci M, et al. (2001). "Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6348–53. doi:10.1073/pnas.101132598. PMID 11371647. 
  • 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. PMID 12477932. 
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Huang HY, Ladanyi M, Soslow RA (2004). "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. PMID 15043312. 
  • Nakajima T, Fujino S, Nakanishi G, et al. (2004). "TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4.". Nucleic Acids Res. 32 (14): 4194–204. doi:10.1093/nar/gkh741. PMID 15302918. 
  • 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. PMID 15489334. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Micci F, Panagopoulos I, Bjerkehagen B, Heim S (2006). "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. doi:10.1158/0008-5472.CAN-05-2485. PMID 16397222. 
  • Nucci MR, Harburger D, Koontz J, et al. (2007). "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. doi:10.1097/01.pas.0000213327.86992.d1. PMID 17197920. 
  • Oliva E, de Leval L, Soslow RA, Herens C (2007). "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. doi:10.1097/PAS.0b013e318031f012. PMID 17667554.