PIP5K1A

Chr 1

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

NCBI Gene: 8394ENSG00000143398UniProt: Q99755

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [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
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
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?
0.54LOEUF
pLI 0.002
Z-score 3.61
OE 0.33 (0.20–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.58Z-score
OE missense 0.60 (0.54–0.68)
199 obs / 330.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.33 (0.20–0.54)
0≤0.351.4
Missense OE?0.60 (0.54–0.68)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 11 / 33.6Missense obs/exp: 199 / 330.8Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIP5K1A · 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