GPLD1

Chr 6

glycosylphosphatidylinositol specific phospholipase D1

Also known as: GPIPLD, GPIPLDM, PIGPLD, PIGPLD1, PLD

Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
28
Pubs (1 yr)
P/LP submissions
P/LP missense
0.83
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.53
OE 0.62 (0.470.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.30Z-score
OE missense 1.04 (0.961.12)
505 obs / 486.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.470.83)
00.351.4
Missense OE?1.04 (0.961.12)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 32 / 51.6Missense obs/exp: 505 / 486.6Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GPLD1 · 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

No active trials found for this gene.

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