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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LPIN1
lipin 1
Chromosome 2 Β· 2p25.1
NCBI Gene: 23175Ensembl: ENSG00000134324.13HGNC: HGNC:13345UniProt: Q14693
137PubMed Papers
21Diseases
0Drugs
54Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
triglyceride biosynthetic processendoplasmic reticulumphosphatidylethanolamine metabolic processprotein bindingmyoglobinuria, acute recurrent, autosomal recessivehereditary recurrent myoglobinuriaAcute rhabdomyolysiscardiac arrest
✦AI Summary

LPIN1 encodes lipin 1, a magnesium-dependent phosphatidate phosphatase that catalyzes conversion of phosphatidic acid to diacylglycerol, controlling fatty acid metabolism during triglyceride and phospholipid biosynthesis 1234. Beyond its enzymatic role, lipin 1 functions as a nuclear transcriptional coactivator regulating lipogenic gene expression through the mTORC1-SREBP pathway 5. mTORC1 phosphorylation controls lipin 1 nuclear localization, where dephosphorylated lipin 1 promotes SREBP-mediated lipid synthesis; inhibition of mTORC1 impairs SREBP function in a lipin 1-dependent manner, protecting against hepatic steatosis 5. Extracellular mechanical cues regulate lipid metabolism through lipin 1-mediated control of SREBP activation, independent of YAP/TAZ and mTOR pathways 6. FXR agonists reduce hepatic mono- and polyunsaturated fatty acids by repressing Lpin1 expression 7. Recently, the PI3K/AKT/mTOR/LPIN1 pathway was identified as protective against hepatocyte ferroptosis in sepsis 8. LPIN1 mutations cause autosomal recessive acute recurrent myoglobinuria, though common genetic variation shows limited association with obesity or insulin resistance in human populations 9. LPIN1 emerges as a ferroptosis-related biomarker in diffuse large B-cell lymphoma pathogenesis 10.

Sources cited
1
LPIN1 acts as magnesium-dependent phosphatidate phosphatase in triglyceride biosynthesis
PMID: 20231281
2
LPIN1 phosphatidate phosphatase activity in phospholipid biosynthesis
PMID: 23426360
3
LPIN1 controls fatty acid metabolism at multiple levels
PMID: 29765047
4
LPIN1 catalyzes phosphatidic acid to diacylglycerol conversion
PMID: 31695197
5
mTORC1 regulates lipin 1 nuclear entry to control SREBP pathway and lipogenesis; lipin 1 knockdown protects against high-fat diet-induced hepatic steatosis
PMID: 21816276
6
Extracellular mechanical cues regulate lipin 1 phosphorylation and SREBP activation to control lipid synthesis
PMID: 30718857
7
FXR activation represses Lpin1 expression to reduce hepatic mono- and polyunsaturated fatty acids
PMID: 34270928
8
3-hydroxybutyrate activates PI3K/AKT/mTOR/LPIN1 pathway to inhibit hepatocyte ferroptosis in sepsis
PMID: 40223164
9
Common LPIN1 genetic variation shows minimal association with BMI and insulin resistance in UK populations; LPIN1 mutations are not common cause of human lipodystrophy
PMID: 18591397
10
LPIN1 identified as ferroptosis-related biomarker gene in diffuse large B-cell lymphoma
PMID: 39488307
Disease Associationsβ“˜21
myoglobinuria, acute recurrent, autosomal recessiveOpen Targets
0.74Strong
hereditary recurrent myoglobinuriaOpen Targets
0.46Moderate
Acute rhabdomyolysisOpen Targets
0.45Moderate
cardiac arrestOpen Targets
0.33Weak
response to COVID-19 vaccineOpen Targets
0.32Weak
LymphadenopathyOpen Targets
0.31Weak
major salivary gland cancerOpen Targets
0.30Weak
neutropeniaOpen Targets
0.30Weak
Abnormal male internal genitalia morphologyOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.27Weak
HyperchloremiaOpen Targets
0.26Weak
phototoxic dermatitisOpen Targets
0.20Weak
injuryOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
hypothyroidismOpen Targets
0.19Weak
smoking initiationOpen Targets
0.18Weak
clavicle fractureOpen Targets
0.16Weak
shoulder fractureOpen Targets
0.16Weak
open-angle glaucomaOpen Targets
0.15Weak
Myoglobinuria, acute recurrent, autosomal recessiveUniProt
Pathogenic Variants54
NM_001349206.2(LPIN1):c.1887-1G>CLikely pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β˜…β˜…β˜†β˜†2026
NM_001349206.2(LPIN1):c.2621+1G>APathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2026
NM_001349206.2(LPIN1):c.1807-1G>APathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 424
NM_001349206.2(LPIN1):c.1029del (p.Gln344fs)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 344
NM_001349206.2(LPIN1):c.181C>T (p.Arg61Ter)Pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive|Acute rhabdomyolysis
β˜…β˜…β˜†β˜†2025β†’ Residue 61
NM_001349206.2(LPIN1):c.1807-2A>GPathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β˜…β˜…β˜†β˜†2025
NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 693
NM_001349206.2(LPIN1):c.835del (p.Ser279fs)Pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β˜…β˜…β˜†β˜†2024β†’ Residue 279
NM_001349206.2(LPIN1):c.1363_1364dup (p.Asp455fs)Pathogenic
not provided|Myoglobinuria, acute recurrent, autosomal recessive
β˜…β˜…β˜†β˜†2024β†’ Residue 455
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive|See cases|LPIN1-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 426
NM_001349206.2(LPIN1):c.942del (p.Pro315fs)Pathogenic
Myoglobinuria, acute recurrent, autosomal recessive
β˜…β˜…β˜†β˜†2021β†’ Residue 315
NM_001349206.2(LPIN1):c.283_284insCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCNNNNNNNNNNAAAAAAAAAAAAAAAGAAACAGATAATG (p.Asn94_Asp95insAlaProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProXaaXaaXaaLysLysLysLysLysGluThrAspAsn)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 94
NM_001349206.2(LPIN1):c.933G>A (p.Trp311Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 311
NM_001349206.2(LPIN1):c.1735del (p.Arg579fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 579
NM_001349206.2(LPIN1):c.1237_1238del (p.Lys413fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 413
NM_001349206.2(LPIN1):c.1520dup (p.Leu508fs)Pathogenic
Acute rhabdomyolysis
β˜…β˜†β˜†β˜†2025β†’ Residue 508
NM_001349206.2(LPIN1):c.227del (p.Leu76fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 76
NM_001349206.2(LPIN1):c.2401_2402+22delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001349206.2(LPIN1):c.193-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression6 tissues
Ovary
100%
Liver
79%
Heart
75%
Lung
61%
Brain
49%
Bone Marrow
31%
Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14693
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.51–0.78]
RankingsWhere LPIN1 stands among ~20K protein-coding genes
  • #3,380of 20,598
    Most Researched137 Β· top quartile
  • #1,257of 5,498
    Most Pathogenic Variants54 Β· top quartile
  • #6,431of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedLPIN1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
PMID: 33190588
Autophagy Β· 2021
1.00
2
FXR activation protects against NAFLD via bile-acid-dependent reductions in lipid absorption.
PMID: 34270928
Cell Metab Β· 2021
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
Time-restricted feeding protects against septic liver injury by reshaping gut microbiota and metabolite 3-hydroxybutyrate.
PMID: 40223164
Gut Microbes Β· 2025
0.70
5
mTOR complex 1 regulates lipin 1 localization to control the SREBP pathway.
PMID: 21816276
Cell Β· 2011
0.60