PTBP1 Gene Summary [Human]
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PTBP1 |
| Official Name | polypyrimidine tract binding protein 1 [Source:HGNC Symbol;Acc:HGNC:9583] |
| Ensembl ID | ENSG00000011304 |
| Bio databases IDs | |
| Aliases | polypyrimidine tract binding protein 1, heterogeneous nuclear ribonucleoprotein I |
| Synonyms | AL033359, HNRNP-I, HNRPI, polypyrimidine tract binding protein 1, pPTB, PTB, PTB-1, PTB2, PTB3, PTB4, Pybp, Pybp1, Pybp2 |
| 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 PTBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- hnRNP-L/PTB/hephaestus splicing factor family
- RNA recognition motif
- nucleic acid binding
- mRNA binding
- nuclear localization sequence
- enzyme
- protein binding
- sequence-specific DNA binding
- single-stranded DNA specific endodeoxyribonuclease
- RNA binding
- RRM-like domain
- single-stranded DNA binding
- poly-pyrimidine tract binding
Pathways
Biological processes and signaling networks where the PTBP1 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
- epithelial cancer
- hepatocellular carcinoma
- liver cancer
- breast cancer
- metastasis
- glaucoma
- open-angle glaucoma
- epithelial ovarian cancer
- refractive error
- ventricular noncompaction
role in cell
- expression in
- invasion by
- proliferation
- production in
- migration
- growth
- quantity
- differentiation
- cisplatin sensitivity
- invasiveness
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
- ribonucleoprotein fractions
- nuclear fraction
- polyribosome fractions
- cytosol
- nuclear foci
- perinucleolar compartments
- nucleoplasm
- nucleoli
- interchromatin granule clusters
- nerve ending
- paraspeckle-like structures
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of muscle cell differentiation
- RNA splicing
- regulation of cell differentiation
- regulation of alternative nuclear mRNA splicing, via spliceosome
- negative regulation of nuclear mRNA splicing, via spliceosome
- regulation of RNA splicing
- positive regulation of calcineurin-NFAT signaling cascade
- positive regulation of protein dephosphorylation
- mRNA processing
- negative regulation of RNA splicing
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- membrane
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- pre-mRNA binding
- protein binding
- RNA binding
- poly-pyrimidine tract binding
- mRNA binding