STAB1

Chr 3p21.1

stabilin 1

Aliases:: KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1
MANE:: ENST00000321725.10

OMIM: 608560 ↗NCBI: 23166 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

STAB1 · Q9NY15

v62025-08-01

Predicted Aligned Error matrix for STAB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.6/ 100

Low

2,570 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)48%
Low(50–70)40%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Iron metabolism disorders - NOT common HFE mutations
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

isolated hyperferritinemia
0.37
intelligence
0.36
Hodgkins lymphoma
0.28
esophageal disorder
0.20
Abnormality of the skeletal system
0.13
neoplasm
0.11
acute myeloid leukemia
0.10
gastric cancer
0.10
schizophrenia
0.09
attention deficit-hyperactivity disorder
0.09

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

Protein function (UniProt)

Stabilin-1

Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system