PTBP1 Gene: Polypyrimidine Tract Binding Protein 1
Key regulator of alternative splicing and RNA metabolism
Gene Information Card
| Symbol | PTBP1 |
|---|---|
| Full Name | polypyrimidine tract binding protein 1 |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 5725 ncbi.nlm.nih.gov/gene/5725 |
| Ensembl ID | ENSG00000011304 |
| UniProt ID | P26599 |
| OMIM ID | 600693 |
| HGNC ID | 9584 |
| Aliases | PTB, PTB-1, PTB-T, HNRNP-I, pPTB |
Description
PTBP1 (polypyrimidine tract binding protein 1) encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This RNA-binding protein regulates alternative splicing, mRNA stability, and translation by binding to polypyrimidine-rich sequences. It plays critical roles in neuronal development, cell differentiation, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | PTBP1 overexpression promotes alternative splicing of oncogenes and metabolic reprogramming (e.g., PKM isoform switch) | PMID: 20010870; COSMIC |
| Neurodegenerative disorders | Dysregulation of PTBP1 alters splicing of neuronal genes, implicated in Alzheimer's and Parkinson's disease | PMID: 23452855; ClinVar |
| Spinal muscular atrophy | PTBP1 modulates SMN2 splicing, affecting disease severity | PMID: 17671090 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Liver | 22.5 | Medium |
| Heart | 18.7 | Medium |
| Skeletal Muscle | 15.3 | Medium |
| Lung | 12.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.6 | Cervical cancer cell line |
| HEK293 | 38.9 | Embryonic kidney cells |
| SH-SY5Y | 52.3 | Neuroblastoma cell line |
| MCF7 | 41.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010G>A (p.Arg337Gln) | Missense | 0.02% (gnomAD) | Altered RNA binding affinity |
| c.1246C>T (p.Arg416Trp) | Missense | 0.01% (gnomAD) | Reduced splicing regulation |
| c.1450_1451insA (p.Thr484Asnfs*5) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing RNA binding and splicing activity.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function by enhancing oncogenic splicing.
Dominant Negative (DN)
Missense mutations in the RNA recognition motifs may interfere with wild-type PTBP1 function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • via spliceosome (GO:0000381) | • mRNA 3'-UTR binding (GO:0003730) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Alternative splicing (Reactome: R-HSA-72163)
• mRNA splicing - Major pathway (Reactome: R-HSA-72172)
• Regulation of PTEN stability and activity (KEGG: hsa05200)
Protein Summary
PTBP1 is a 531-amino acid RNA-binding protein with four RNA recognition motifs (RRMs). It binds to polypyrimidine tracts in pre-mRNA and regulates alternative splicing, often repressing exon inclusion. PTBP1 is highly expressed in the brain and many cancers, where it promotes the PKM2 isoform switch and metabolic reprogramming. Its nuclear-cytoplasmic shuttling is important for mRNA transport and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTBP1 Knockout HEK293 Cell Line | EDJ-KQ2050 | Human | 5725 | Details Get a Quote |
| PTBP1 Knockout HCT 116 Cell Line | EDJ-KQ22106 | Human | 5725 | Details Get a Quote |
| PTBP1 Knockout HeLa Cell Line | EDJ-KQ22107 | Human | 5725 | Details Get a Quote |
| PTBP1 Knockout A-549 Cell Line | EDJ-KQ62742 | Human | 5725 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
