PAK1IP1

Chr 6

PAK1 interacting protein 1

Also known as: MAK11, PIP1, WDR84, bA421M1.5, hPIP1

NCBI Gene: 55003ENSG00000111845UniProt: Q9NWT1

Predicted to enable protein kinase inhibitor activity. Involved in regulation of signal transduction by p53 class mediator and ribosomal large subunit biogenesis. Located in nucleolus. [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.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.363
Z-score 3.02
OE 0.23 (0.11–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.83Z-score
OE missense 0.84 (0.74–0.95)
173 obs / 206.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.23 (0.11–0.52)
0≤0.351.4
Missense OE?0.84 (0.74–0.95)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 4 / 17.7Missense obs/exp: 173 / 206.4Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAK1IP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients