LPIN1

Chr 2

lipin 1

ENSG00000134324UniProt: Q14693

Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the metabolism of fatty acids at different levels (PubMed:20231281, PubMed:23426360, PubMed:29765047, PubMed:31695197). Is involved in adipocyte differentiation (By similarity). Recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity). Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression (By similarity)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyoglobinuria, acute recurrent, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)
myoglobinuria, acute recurrent, autosomal recessive · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
57
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
0.73LOEUF
pLI 0.000
Z-score 3.19
OE 0.53 (0.40–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.87Z-score
OE missense 0.90 (0.83–0.96)
499 obs / 556.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.40–0.73)
0≤0.351.4
Missense OE?0.90 (0.83–0.96)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 29 / 54.4Missense obs/exp: 499 / 556.7Syn Z: 0.15

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

LPIN1 · 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