SLC45A1

Chr 1p36.23

solute carrier family 45 member 1

MANE:: ENST00000471889.7

OMIM: 605763 ↗NCBI: 50651 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC45A1 · Q9Y2W3

v62025-08-01

Predicted Aligned Error matrix for SLC45A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.9/ 100

Low

748 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)26%
Low(50–70)5%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder with neuropsychiatric features
0.67
hypertensive disorder
0.40
migraine disorder
0.38
autosomal recessive non-syndromic intellectual disability
0.37
asthma
0.36
premature birth
0.35
essential hypertension
0.33
preeclampsia
0.33
hair color
0.31
psoriasis
0.29

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

Protein function (UniProt)

Proton-associated sugar transporter A

Neuron-specific proton-associated hexose transporter, which mediates hexose efflux from lysosomes (PubMed:28434495, PubMed:41576950). Hexose efflux is required for the stability of the vacuolar ATPase (V-ATPase) complex on the lysosomal membrane (PubMed:41576950)