PUM1

Chr 1AD

pumilio RNA binding family member 1

Also known as: HSPUM, NEDMSF, PUMH, PUMH1, PUML1, SCA47

NCBI Gene: 9698 ENSG00000134644 UniProt: Q14671 OMIM: 607204

The PUM1 protein is an RNA-binding protein that regulates gene expression by binding to the 3' untranslated regions of target mRNAs and repressing their translation, playing critical roles in cell cycle regulation, DNA repair, and neuronal function. Mutations cause a neurodevelopmental disorder with motor abnormalities and facial dysmorphism with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, indicating that proper PUM1 function is essential for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with motor abnormalities, and facial dysmorphismMIM #620719

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

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted