PRDM16 Gene Summary [Human]
The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PRDM16 |
| Official Name | PR/SET domain 16 [Source:HGNC Symbol;Acc:HGNC:14000] |
| Ensembl ID | ENSG00000142611 |
| Bio databases IDs | |
| Aliases | PR/SET domain 16, MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1 |
| Synonyms | 5730557K01RIK, CMD1LL, csp1, KMT8F, LOC100290519, LOC103692529, LOC647868, LVNC8, MEL1, PFM13, PR domain containing 16, PR/SET domain 16 |
| 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 PRDM16 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- SMAD binding
- RD rich domain
- transcription regulator
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- transcription co-activator
- DNA binding domain
- nucleic acid binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- histone lysine N-methyltransferase activity (H3-K9 specific)
- zinc finger
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- histone methyltransferase
- C-terminal-binding protein interaction domain
- double-stranded DNA binding
- Zinc-finger double domain
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
Pathways
Biological processes and signaling networks where the PRDM16 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic pain
- migraines
- headache
- obesity
- heart failure
- hypertension
- ulcerative colitis
- left ventricular noncompaction type 8
- dilated cardiomyopathy type 1LL
- open-angle glaucoma
role in cell
- apoptosis
- signaling in
- expression in
- proliferation
- upregulation in
- function
- activation in
- differentiation
- growth
- number
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
- aggresome
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRDM16 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- heterochromatin organization
- brown fat cell differentiation
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- regulation of cellular respiration
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of transforming growth factor beta receptor signaling pathway
- regulation of transcription from RNA polymerase II promoter
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcriptional repressor complex
- cytosol
- aggresome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription cofactor activity
- transcription coactivator activity
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- histone methyltransferase activity (H3-K9 specific)
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription