PTBP3 Gene (Polypyrimidine Tract Binding Protein 3)
Regulator of alternative splicing and RNA metabolism
Gene Information Card
| Symbol | PTBP3 |
|---|---|
| Full Name | Polypyrimidine tract binding protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 9991 ncbi.nlm.nih.gov/gene/9991 |
| Ensembl ID | ENSG00000119314 |
| UniProt ID | O95758 |
| OMIM ID | 607521 |
| HGNC ID | 9629 |
| Aliases | ROD1, PTB-3, ROD1 regulator of differentiation 1 |
Description
PTBP3 (polypyrimidine tract binding protein 3) encodes a member of the PTBP family of RNA-binding proteins. It regulates alternative splicing, mRNA stability, and translation by binding to polypyrimidine-rich sequences. PTBP3 is involved in cell differentiation, proliferation, and immune response. Its expression is altered in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PTBP3 overexpression promotes proliferation and metastasis via alternative splicing of oncogenes | COSMIC, PMID: 30737409 |
| Colorectal cancer | PTBP3 upregulation correlates with poor prognosis and enhances Wnt signaling | COSMIC, PMID: 31591468 |
| Glioma | PTBP3 knockdown reduces tumor growth and invasion in vitro | COSMIC, PMID: 29367642 |
| Hepatocellular carcinoma | PTBP3 overexpression linked to EMT and metastasis | COSMIC, PMID: 30530645 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Breast | 15.2 | Medium |
| Colon | 14.8 | Medium |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | High expression |
| HCT116 (colorectal cancer) | 16.2 | High expression |
| U87MG (glioma) | 14.0 | Medium expression |
| HepG2 (liver cancer) | 11.3 | Medium expression |
| HEK293 (embryonic kidney) | 9.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | <0.1% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Reported in COSMIC |
| c.789_790insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of RNA-binding activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter splicing regulation.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • via spliceosome (GO:0000381) | • via spliceosome (GO:0048025) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Alternative splicing (Reactome: R-HSA-72163)
• mRNA 3'-end processing (Reactome: R-HSA-72187)
• Regulation of PTEN stability and activity (KEGG: hsa05200)
Protein Summary
PTBP3 is a 531-amino acid RNA-binding protein containing four RRM (RNA recognition motif) domains. It shuttles between nucleus and cytoplasm, regulating splicing of pre-mRNAs and stability of target transcripts. PTBP3 is highly expressed in testis and certain cancers, where it modulates oncogenic splicing programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTBP3 Knockout HEK293 Cell Line | EDJ-KQ6854 | Human | 9991 | Details Get a Quote |
| PTBP3 Knockout A-549 Cell Line | EDJ-KQ31420 | Human | 9991 | Details Get a Quote |
| PTBP3 Knockout HCT 116 Cell Line | EDJ-KQ31421 | Human | 9991 | Details Get a Quote |
| PTBP3 Knockout HeLa Cell Line | EDJ-KQ31422 | Human | 9991 | Details Get a Quote |
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