GPIHBP1

Chr 8q24.3

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

Aliases:: LOC338328, GPI-HBP1
MANE:: ENST00000622500.2

OMIM: 612757 ↗NCBI: 338328 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GPIHBP1 · Q8IV16

v62025-08-01

Predicted Aligned Error matrix for GPIHBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.4/ 100

Confident

184 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)8%
Low(50–70)26%
Very low(< 50)22%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial chylomicronaemia syndrome (FCS)
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Severe hypertriglyceridaemia
BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia

Disease associations (Open Targets)

Hyperlipoproteinemia type 1
0.80
familial chylomicronemia syndrome
0.69
Abnormality of the cardiovascular system
0.41
familial lipoprotein lipase deficiency
0.35
alcohol drinking
0.25
pernicious anemia
0.25
physical activity
0.22
preeclampsia
0.21
neoplasm
0.09
non-small cell lung carcinoma
0.08

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

Protein function (UniProt)

Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1

Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding (PubMed:27929370, PubMed:29899144). Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis (PubMed:19304573, PubMed:21314738). Binds chylomicrons and phospholipid particles that contain APOA5 (PubMed:17997385, PubMed:19304573). Binds high-density lipoprotein (HDL) and plays a role in the uptake of lipids from HDL (By similarity)