PPP1R1A

Chr 12

protein phosphatase 1 regulatory inhibitor subunit 1A

Also known as: I1, IPP1

NCBI Gene: 5502ENSG00000135447UniProt: Q13522OMIM: 613246

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
2
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.99
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.99LOEUF
pLI 0.022
Z-score 1.59
OE 0.43 (0.21–0.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.98Z-score
OE missense 0.71 (0.58–0.88)
66 obs / 92.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.21–0.99)
0≤0.351.4
Missense OE?0.71 (0.58–0.88)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 4 / 9.2Missense obs/exp: 66 / 92.4Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP1R1A · protein map & ClinVar variants

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

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