Disease-gene associations mined from literature

Literature associating PTBP1 and mouth disease

PTBP1 [ENSP00000349428]

Heterogeneous nuclear ribonucleoprotein I; 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. In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation.

Synonyms:  PTBP1,  PTBP1p,  hPTBP1,  K7EKJ7,  K7EKX4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM