PATZ1, Official Symbol PATZ1provided by HGNC Official Full Name POZ/BTB and AT hook containing zinc finger 1provided by HGNC Primary source HGNC:HGNC:13071 See related Ensembl:ENSG00000100105 MIM:605165; AllianceGenome:HGNC:13071 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZSG; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; dJ400N23 Summary 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues See more Orthologs mouse all