Aliases for PATZ1 Gene
External Ids for PATZ1 Gene
Previous HGNC Symbols for PATZ1 Gene
Previous GeneCards Identifiers for PATZ1 Gene
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]
GeneCards Summary for PATZ1 Gene
PATZ1 (POZ/BTB And AT Hook Containing Zinc Finger 1) is a Protein Coding gene. Diseases associated with PATZ1 include Sarcoma and Bone Epithelioid Hemangioma. Among its related pathways are Androgen receptor signaling pathway and Coregulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is MAZ.
UniProtKB/Swiss-Prot Summary for PATZ1 Gene