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 Velocardiofacial Syndrome. Among its related pathways are Cell Cycle, Mitotic and Meiosis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is HKR1.
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).