PSME3IP1

Chr 16

proteasome activator subunit 3 interacting protein 1

Also known as: C16orf94, CDA018, CDA10, FAM192A, NIP30, PIP30

NCBI Gene: 80011 ENSG00000172775 UniProt: Q9GZU8

The PSME3IP1 protein regulates proteasome activity by promoting association of the PSME3 activator complex with the 20S proteasome and inhibiting degradation of certain substrates. This gene is highly constrained against loss-of-function variants (LOEUF 0.594), but no human disease phenotypes have been definitively associated with PSME3IP1 mutations to date.

ResearchSummary from RefSeq, UniProt

Involved in negative regulation of proteasomal protein catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

—

P/LP missense

0.59

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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