Aliases for PRDM9 Gene
External Ids for PRDM9 Gene
Previous HGNC Symbols for PRDM9 Gene
Previous GeneCards Identifiers for PRDM9 Gene
The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]
GeneCards Summary for PRDM9 Gene
PRDM9 (PR/SET Domain 9) is a Protein Coding gene. Diseases associated with PRDM9 include Koolen-De Vries Syndrome. Among its related pathways are Chromatin organization and Meiosis. GO annotations related to this gene include nucleic acid binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is ZNF343.
UniProtKB/Swiss-Prot for PRDM9 Gene
Histone methyltransferase that specifically trimethylates Lys-4 of histone H3 during meiotic prophase and is essential for proper meiotic progression. Does not have the ability to mono- and dimethylate Lys-4 of histone H3. H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes during early meiotic prophase (By similarity).