STRA6

Chr 15q24.1

signaling receptor and transporter of retinol STRA6

Aliases:: SLC69A1, FLJ12541
MANE:: ENST00000395105.9

OMIM: 610745 ↗NCBI: 64220 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

STRA6 · Q9BX79

v62025-08-01

Predicted Aligned Error matrix for STRA6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.8/ 100

Confident

667 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)36%
Low(50–70)12%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomal
CAKUT
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Matthew-Wood syndrome
0.83
microphthalmia, isolated, with coloboma 8
0.61
anophthalmia-microphthalmia syndrome
0.46
microphthalmia
0.45
Abnormality of the skeletal system
0.44
microphthalmia, isolated, with coloboma
0.38
syndromic microphthalmia
0.37
hereditary disease
0.19
coffee consumption
0.09
retinitis pigmentosa
0.09

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

Protein function (UniProt)

Receptor for retinol uptake STRA6

Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:18316031, PubMed:22665496, PubMed:9452451). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031)