LPIN1

Chr 2p25.1

lipin 1

Aliases:: KIAA0188
MANE:: ENST00000674199.1

OMIM: 605518 ↗NCBI: 23175 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LPIN1 · Q14693

v62025-08-01

Predicted Aligned Error matrix for LPIN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.4/ 100

Low

890 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)15%
Low(50–70)10%
Very low(< 50)50%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
Childhood onset dystonia, chorea or related movement disorder
Hyperammonaemia

Disease associations (Open Targets)

myoglobinuria, acute recurrent, autosomal recessive
0.74
hereditary recurrent myoglobinuria
0.70
Acute rhabdomyolysis
0.45
cardiac arrest
0.31
neutropenia
0.29
response to COVID-19 vaccine
0.28
Lymphadenopathy
0.28
ovarian dysfunction
0.28
Abnormal male internal genitalia morphology
0.28
placental abruption
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidate phosphatase LPIN1

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)