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PTBP1

Chr 19p13.3

polypyrimidine tract binding protein 1

Aliases:
HNRPI, HNRNP-I, PTB2, PTB3, PTB-1
MANE:
ENST00000356948.11
OMIM: 600693 ↗NCBI: 5725 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Bilateral congenital or childhood onset cataracts

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder

    0.51

  • dengue disease

    0.37

  • open-angle glaucoma

    0.13

  • glioblastoma

    0.12

  • cancer

    0.11

  • gastric cancer

    0.11

  • neoplasm

    0.11

  • hepatocellular carcinoma

    0.11

  • glioma

    0.11

  • central nervous system cancer

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polypyrimidine tract-binding protein 1

Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). Binds to polypyrimidine-rich controlling element (PCE) of CFTR and promotes exon skipping of CFTR exon 9, thereby antagonizing TIA1 and its role in exon inclusion of CFTR exon 9 (PubMed:14966131). Plays a role in the splicing of pyruvate kinase PKM by binding repressively to a polypyrimidine tract flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806)

Diseases associated with PTBP1

Curated MONDO disease pages that list PTBP1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.