ABCA1

Chr 9q31.1

ATP binding cassette subfamily A member 1

Aliases:: TGD
MANE:: ENST00000374736.8

OMIM: 600046 ↗NCBI: 19 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ABCA1 · O95477

v62025-08-01

Predicted Aligned Error matrix for ABCA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.3/ 100

Confident

2,261 residues

Confidence breakdown

Very high(≥ 90)6%
Confident(70–90)61%
Low(50–70)24%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
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
Familial hypercholesterolaemia

Disease associations (Open Targets)

Tangier disease
0.84
hypoalphalipoproteinemia, primary, 1
0.75
Decreased HDL cholesterol concentration
0.60
metabolic syndrome
0.57
Hypercholesterolemia
0.57
metabolic disease
0.55
open-angle glaucoma
0.55
glaucoma
0.55
coronary artery disorder
0.53
alcohol drinking
0.51

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

Protein function (UniProt)

Phospholipid-transporting ATPase ABCA1

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981, PubMed:35974019). Thereby, participates in phospholipid transfer to apolipoproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apolipoproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981, PubMed:35974019). Translocates phospholipids from the outer face of the plasma membrane and forces it through its gateway and annulus into an elongated hydrophobic tunnel in its extracellular domain (PubMed:35974019)

Curated MONDO disease pages that list ABCA1 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with ABCA1