PLIN1

Chr 15q26.1

perilipin 1

MANE:: ENST00000300055.10

OMIM: 170290 ↗NCBI: 5346 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLIN1 · O60240

v62025-08-01

Predicted Aligned Error matrix for PLIN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.7/ 100

Low

522 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)21%
Low(50–70)34%
Very low(< 50)45%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe insulin resistance and lipodystrophy syndromes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diabetes with additional phenotypes suggestive of a monogenic aetiology
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Insulin resistance (including lipodystrophy)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

PLIN1-related familial partial lipodystrophy
0.73
diabetic neuropathy
0.17
monogenic diabetes
0.15
small intestine neoplasm
0.14
breast cancer
0.10
hepatocellular carcinoma
0.10
breast carcinoma
0.09
liposarcoma
0.08
type 2 diabetes mellitus
0.08
polycystic ovary syndrome
0.08

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

Protein function (UniProt)

Perilipin-1

Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels