PABPC1

Chr 8

poly(A) binding protein cytoplasmic 1

Also known as: PAB1, PABP, PABP1, PABPC2, PABPL1

NCBI Gene: 26986 ENSG00000070756 UniProt: P11940

The poly(A) binding protein binds to the poly(A) tail of mRNAs and regulates mRNA stability, translation initiation, and mRNA decay processes. Mutations cause autosomal dominant developmental delay with variable intellectual disability, speech delays, and behavioral abnormalities including autism spectrum features. This gene is highly constrained against loss-of-function variants (pLI 0.996, LOEUF 0.27), indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)