PLB1

Chr 2

phospholipase B1

Also known as: PLB, PLB/LIP

NCBI Gene: 151056ENSG00000163803UniProt: Q6P1J6

This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]

0
Active trials
16
Pathogenic / LP
306
ClinVar variants
5
Pubs (1 yr)
-0.6
Missense Z
1.23
LOEUF
Clinical Summary— PLB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 233 VUS of 306 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.23LOEUF
pLI 0.000
Z-score -0.41
OE 1.04 (0.89–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.59Z-score
OE missense 1.06 (1.00–1.12)
866 obs / 818.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.04 (0.89–1.23)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.06 (1.00–1.12)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.13
0≤1.21.6
LoF obs/exp: 107 / 102.5Missense obs/exp: 866 / 818.6Syn Z: -1.84

ClinVar Variant Classifications

306 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic1
VUS233
Likely Benign33
Benign22
Conflicting2
15
Pathogenic
1
Likely Pathogenic
233
VUS
33
Likely Benign
22
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
1
0
1
VUS
0
221
12
0
233
Likely Benign
2
16
5
10
33
Benign
0
14
4
4
22
Conflicting
—2
Total22513714306

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PLB1 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Large-Scale Plasma Proteomics Improves Prediction of Peripheral Artery Disease in Individuals With Type 2 Diabetes: A Prospective Cohort Study.
Yu H et al.·Diabetes Care
2025Cohort
Identification of Tumor Antigens and Immune Subtypes of Glioblastoma for mRNA Vaccine Development.
Lin H et al.·Front Immunol
2022
Genotypes and population genetics of cryptococcus neoformans and cryptococcus gattii species complexes in Europe and the mediterranean area.
Cogliati M et al.·Fungal Genet Biol
2019
Diagnosis of Oral candidiasis in Patients under 12 Years: 18S rRNA as a Marker of Molecular Characterization of Candida tropicalis.
Alwaily ER et al.·Arch Razi Inst
2023Cohort
Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.
Endo C et al.·Sci Rep
2018Clinical trial
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Allelic variation in CYP3A4 and PLB1 drives feed efficiency and immunometabolic resilience in beef cattle.
Morenikeji OB et al.·BMC Genomics
2025Open Access
Identification of plb1 mutation that extends longevity via activating Sty1 MAPK in Schizosaccharomyces pombe.
Maekawa Y et al.·Mol Genet Genomics
2024
Synergistic roles of the phospholipase B homolog Plb1 and the cAMP-dependent protein kinase Pka1 in the hypertonic stress response of Schizosaccharomyces pombe.
Matsuo Y et al.·Curr Genet
2022
Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.
Okada Y et al.·PLoS One
2014Open Access
Abnormal cognition, sleep, EEG and brain metabolism in a novel knock-in Alzheimer mouse, PLB1.
Platt B et al.·PLoS One
2011Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗

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