PATZ1

From Wikipedia, the free encyclopedia


POZ (BTB) and AT hook containing zinc finger 1
Identifiers
Symbol(s) PATZ1; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; ZSG; dJ400N23
External IDs OMIM: 605165 MGI1891832 HomoloGene8636
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 23598 56218
Ensembl ENSG00000100105 ENSMUSG00000020453
Uniprot Q9HBE1 n/a
Refseq NM_014323 (mRNA)
NP_055138 (protein)
NM_019574 (mRNA)
NP_062520 (protein)
Location Chr 22: 30.05 - 30.07 Mb Chr 11: 3.19 - 3.21 Mb
Pubmed search [1] [2]

POZ (BTB) and AT hook containing zinc finger 1, also known as PATZ1, is a human gene.[1]

The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene.[1]

[edit] References

[edit] Further reading

  • "Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097–108. PMID 9847074. 
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  • Kobayashi A, Yamagiwa H, Hoshino H, et al. (2000). "A combinatorial code for gene expression generated by transcription factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ domain.". Mol. Cell. Biol. 20 (5): 1733–46. PMID 10669750. 
  • Fedele M, Benvenuto G, Pero R, et al. (2000). "A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor.". J. Biol. Chem. 275 (11): 7894–901. PMID 10713105. 
  • Mastrangelo T, Modena P, Tornielli S, et al. (2000). "A novel zinc finger gene is fused to EWS in small round cell tumor.". Oncogene 19 (33): 3799–804. doi:10.1038/sj.onc.1203762. PMID 10949935. 
  • Pero R, Lembo F, Palmieri EA, et al. (2002). "PATZ attenuates the RNF4-mediated enhancement of androgen receptor-dependent transcription.". J. Biol. Chem. 277 (5): 3280–5. doi:10.1074/jbc.M109491200. PMID 11719514. 
  • Mitchelmore C, Kjaerulff KM, Pedersen HC, et al. (2002). "Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms. Association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.". J. Biol. Chem. 277 (9): 7598–609. doi:10.1074/jbc.M110023200. PMID 11744704. 
  • Morii E, Oboki K, Kataoka TR, et al. (2002). "Interaction and cooperation of mi transcription factor (MITF) and myc-associated zinc-finger protein-related factor (MAZR) for transcription of mouse mast cell protease 6 gene.". J. Biol. Chem. 277 (10): 8566–71. doi:10.1074/jbc.M110392200. PMID 11751862. 
  • 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. 
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802. 
  • 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.