MPPE1

Chr 18

metallophosphoesterase 1

Also known as: Cdc1, PGAP5

NCBI Gene: 65258ENSG00000154889UniProt: Q53F39

Predicted to enable GPI anchor binding activity; GPI-mannose ethanolamine phosphate phosphodiesterase activity; and manganese ion binding activity. Involved in GPI anchor biosynthetic process. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
2
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.21
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.000
Z-score 0.85
OE 0.79 (0.54–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.93 (0.83–1.05)
210 obs / 224.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.54–1.21)
0≤0.351.4
Missense OE?0.93 (0.83–1.05)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 16 / 20.1Missense obs/exp: 210 / 224.9Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MPPE1 · 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