PSIP1

Chr 9

PC4 and SRSF1 interacting protein 1

Also known as: DFS70, LEDGF, PAIP, PSIP2, p52, p75

NCBI Gene: 11168 ENSG00000164985 UniProt: O75475 OMIM: 603620

PSIP1 encodes a transcriptional coactivator that regulates neuroepithelial stem cell differentiation and neurogenesis, and also functions in pre-mRNA splicing and lens development. Mutations cause autosomal dominant developmental delay with intellectual disability, seizures, and distinctive facial features, with onset in early childhood. This gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription factor binding activity; chromatin binding activity; and transcription coactivator activity. Involved in mRNA 5'-splice site recognition and positive regulation of transcription by RNA polymerase II. Located in heterochromatin; nuclear periphery; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted