PRDM9 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PRDM9 |
| Official Name | PR/SET domain 9 [Source:HGNC Symbol;Acc:HGNC:13994] |
| Ensembl ID | ENSG00000164256 |
| Bio databases IDs | |
| Aliases | PR/SET domain 9, PR-domain containing protein 9, histone-lysine N-methyltransferase PRDM9 |
| Synonyms | BC012016, Dsbc1, G1-419-29, KMT8B, MEISETZ, MSBP3, PFM6, Prdm7, PRDM9-B, PR domain containing 9, PR/SET domain 9, Rcr1, repro7, ZNF899 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRDM9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- nucleic acid binding
- enzyme
- SSXRD motif
- protein binding
- KRAB (Kruppel-associated box) domain -A box
- sequence-specific DNA binding
- DNA binding
- krueppel associated box
- histone lysine N-methyltransferase activity (H3-K4 specific)
- double-stranded DNA binding
- histone lysine N-methyltransferase activity (H3-K36 specific)
- Zinc-finger double domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- protein homodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRDM9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- female gamete generation
- male gamete generation
- chromatin remodeling
- positive regulation of reciprocal meiotic recombination
- negative regulation of apoptotic process
- regulation of gene expression
- regulation of transcription, DNA-dependent
- meiotic gene conversion
- synapsis
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- zinc ion binding
- protein homodimerization activity
- transcription regulatory region sequence-specific DNA binding
- histone methyltransferase activity (H3-K36 specific)
- recombination hotspot binding