SERBP1

Chr 1

SERPINE1 mRNA binding protein 1

Also known as: CGI-55, CHD3IP, HABP4L, Hero45, PAI-RBP1, PAIRBP1

NCBI Gene: 26135 ENSG00000142864 UniProt: Q8NC51

The SERBP1 protein promotes ribosome hibernation by stabilizing ribosomes in an inactive state and also regulates mRNA stability by binding to mRNA 3'-UTR regions. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. This gene is highly constrained against loss-of-function variants, indicating that SERBP1 haploinsufficiency is likely not tolerated in humans.

ResearchSummary from RefSeq, UniProt

Enables several functions, including SUMO binding activity; mRNA 3'-UTR binding activity; and translation repressor activity. Involved in PML body organization and ribosome hibernation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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