PLAGL1 Gene Summary [Human]
This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | PLAGL1 |
| Official Name | PLAG1 like zinc finger 1 [Source:HGNC Symbol;Acc:HGNC:9046] |
| Ensembl ID | ENSG00000118495 |
| Bio databases IDs | |
| Aliases | PLAG1 like zinc finger 1 |
| Synonyms | 2610311E24Rik, LOT1, PLAG1 like zinc finger 1, pleiomorphic adenoma gene-like 1, ZAC, ZAC1 |
| 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 PLAGL1 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
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- Zinc-finger double domain
- protein binding
- zinc finger domain
- sequence-specific DNA binding
- DNA binding
Pathways
Biological processes and signaling networks where the PLAGL1 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
- fibrosis
- atelectasis
- HER2 negative hormone receptor negative breast cancer
- glioblastoma
- glioblastoma cancer
- dyspnea
role in cell
- proliferation
- activation in
- apoptosis
- expression in
- migration
- growth
- morphology
- cell cycle progression
- differentiation
- colony formation
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
- nuclear fraction
- intracellular membrane-bounded organelle
- Golgi Apparatus
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLAGL1 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
- apoptotic process
- regulation of cell cycle
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nuclear body
- intracellular membrane-bounded organelle
- Golgi apparatus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II 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
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription