LDLRAP1

Chr 1p36.11

low density lipoprotein receptor adaptor protein 1

Aliases:: ARH, ARH2, FHCB1, FHCB2, MGC34705
MANE:: ENST00000374338.5

OMIM: 605747 ↗NCBI: 26119 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LDLRAP1 · Q5SW96

v62025-08-01

Predicted Aligned Error matrix for LDLRAP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.4/ 100

Low

308 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)11%
Low(50–70)15%
Very low(< 50)36%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial hypercholesterolaemia
BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia (GMS)
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

homozygous familial hypercholesterolemia
0.79
familial hypercholesterolemia
0.67
Abnormality of the cardiovascular system
0.54
Hypercholesterolemia
0.46
Crohn disease
0.36
hypercholesterolemia, familial, 1
0.13
preeclampsia
0.10
hyperlipoproteinemia type V
0.09
Hyperlipoproteinemia type 5
0.09
hypertriglyceridemia 2
0.09

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

Protein function (UniProt)

Low density lipoprotein receptor adapter protein 1

Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytosis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity)