RPRD1A

Chr 18

regulation of nuclear pre-mRNA domain containing 1A

Also known as: HsT3101, P15RS

NCBI Gene: 55197 ENSG00000141425 UniProt: Q96P16 OMIM: 610347

This gene encodes a transcription regulatory protein that interacts with RNA polymerase II and participates in dephosphorylation of its C-terminal domain, while also functioning as a negative regulator of cell cycle progression. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, cataracts, and developmental delay. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.58), consistent with its role in essential cellular processes.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

OMIM 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

0.58

LOEUF

Mechanism· predicted