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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PTBP1
polypyrimidine tract binding protein 1
Chromosome 19 Β· 19p13.3
NCBI Gene: 5725Ensembl: ENSG00000011304.22HGNC: HGNC:9583UniProt: A0A7I2V621
499PubMed Papers
20Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmregulation of alternative mRNA splicing, via spliceosomeRNA bindingnegative regulation of RNA splicingdengue diseaseneoplasmgastric cancercancer
✦AI Summary

PTBP1 (polypyrimidine tract binding protein 1) is a crucial RNA-binding protein that regulates pre-mRNA splicing and alternative splicing events. PTBP1 binds to polypyrimidine tracts in introns and promotes RNA looping to control exon inclusion or skipping 1. The protein exhibits positional rules in splicing regulation, where PTBP1-associated loops within individual introns promote cassette exon splicing, while loops spanning across cassette exons repress splicing 1. PTBP1 directly binds to and promotes alternative splicing that leads to nonsense-mediated mRNA decay, as demonstrated with SYNGAP1 regulation 2. Beyond splicing control, PTBP1 depletion can convert astrocytes to functional neurons both in vitro and in vivo, showing therapeutic potential for neurodegenerative diseases like Parkinson's disease 3. However, some astrocyte-to-neuron conversion studies have been challenged by lineage tracing experiments 4. In cancer contexts, PTBP1 knockdown promotes neural differentiation of glioblastoma cells through UNC5B receptor signaling, inhibiting tumor growth 5. PTBP1 is also subject to post-translational modifications, with lactylation at K436 enhancing its RNA-binding capacity and promoting glioma stem cell maintenance through metabolic reprogramming 6. These findings establish PTBP1 as a critical regulator of RNA processing with significant implications for neurological diseases and cancer therapy.

Sources cited
1
PTBP1 binds to polypyrimidine tracts and exhibits positional rules in splicing regulation through RNA loop formation
PMID: 36958328
2
PTBP1 directly binds to and promotes SYNGAP1 alternative splicing that leads to nonsense-mediated mRNA decay
PMID: 36917980
3
PTBP1 depletion can convert astrocytes to functional neurons and shows therapeutic potential for Parkinson's disease
PMID: 32581380
4
Lineage tracing experiments challenge some astrocyte-to-neuron conversion studies involving PTBP1
PMID: 34582787
5
PTBP1 knockdown promotes neural differentiation of glioblastoma cells through UNC5B receptor signaling
PMID: 35664063
6
PTBP1 lactylation at K436 enhances RNA-binding capacity and promotes glioma stem cell maintenance
PMID: 39570804
Disease Associationsβ“˜20
dengue diseaseOpen Targets
0.37Weak
neoplasmOpen Targets
0.11Weak
gastric cancerOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
gliomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
osteosarcomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
glioblastomaOpen Targets
0.10Suggestive
open-angle glaucomaOpen Targets
0.09Suggestive
liver cancerOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
KeloidOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
glaucomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.08Suggestive
Pathogenic Variants9
NM_002819.5(PTBP1):c.2T>C (p.Met1Thr)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_002819.5(PTBP1):c.1A>G (p.Met1Val)Pathogenic
not provided|PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_002819.5(PTBP1):c.41G>A (p.Arg14Gln)Pathogenic
Squamous cell carcinoma of the head and neck|PTBP1-related neurodevelopmental disorder with skeletal dysplasia
β˜…β˜†β˜†β˜†2025β†’ Residue 14
NM_002819.5(PTBP1):c.1A>C (p.Met1Leu)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_002819.5(PTBP1):c.2T>G (p.Met1Arg)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_002819.5(PTBP1):c.2T>A (p.Met1Lys)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_002819.5(PTBP1):c.3G>C (p.Met1Ile)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_002819.5(PTBP1):c.137A>C (p.Lys46Thr)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia|STAD syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 46
NM_002819.5(PTBP1):c.144A>T (p.Lys48Asn)Pathogenic
PTBP1-related neurodevelopmental disorder with skeletal dysplasia
β˜…β˜†β˜†β˜†2025β†’ Residue 48
View on ClinVar β†—
Related Genes
FUSProtein interaction99%HNRNPA1Protein interaction99%HNRNPA2B1Protein interaction99%HNRNPABProtein interaction99%HNRNPFProtein interaction99%HNRNPH1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
81%
Liver
72%
Ovary
69%
Brain
56%
Heart
20%
Gene Interaction Network
Click a node to explore
PTBP1FUSHNRNPA1HNRNPA2B1HNRNPABHNRNPFHNRNPH1
PROTEIN STRUCTURE
Preparing viewer…
PDB3ZZY Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.08–0.25]
RankingsWhere PTBP1 stands among ~20K protein-coding genes
  • #535of 20,598
    Most Researched499 Β· top 5%
  • #2,906of 5,498
    Most Pathogenic Variants9
  • #756of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedPTBP1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
PIM1 instigates endothelial-to-mesenchymal transition to aggravate atherosclerosis.
PMID: 39744686
Theranostics Β· 2025
1.00
2
PTBP1 Lactylation Promotes Glioma Stem Cell Maintenance through PFKFB4-Driven Glycolysis.
PMID: 39570804
Cancer Res Β· 2025
0.90
3
Reversing a model of Parkinson's disease with in situ converted nigral neurons.
PMID: 32581380
Nature Β· 2020
0.80
4
Hypoxia-driven M2-polarized macrophages facilitate the epithelial-mesenchymal transition of glioblastoma via extracellular vesicles.
PMID: 39431006
Theranostics Β· 2024
0.72
5
Transcriptome variation in human tissues revealed by long-read sequencing.
PMID: 35922509
Nature Β· 2022
0.70