Harmonizome 3.0

splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 1

polypyrimidine tract binding protein 3

The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

polypyrimidine tract binding protein 2

The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

polypyrimidine tract binding protein 1

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

polypyrimidine tract binding protein 1 pseudogene

spinocerebellar ataxia, autosomal recessive 2

spinocerebellar ataxia, autosomal recessive 3

spinocerebellar ataxia with saccadic intrusions

spinocerebellar ataxia 20

spinocerebellar ataxia 21

spinocerebellar ataxia 25

spinocerebellar ataxia 26

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

spinocerebellar ataxia, X-linked 2

spinocerebellar ataxia, X-linked 3

spinocerebellar ataxia, X-linked 4

Spinocerebellar ataxia, X-linked 5

spinocerebellar ataxia 9

spinocerebellar ataxia 37

spinocerebellar ataxia 32

spinocerebellar ataxia 30