SLC29A3

Chr 10q22.1

solute carrier family 29 member 3

Aliases:: ENT3, FLJ11160, hENT3
MANE:: ENST00000373189.6

OMIM: 612373 ↗NCBI: 55315 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SLC29A3 · Q9BZD2

v62025-08-01

Predicted Aligned Error matrix for SLC29A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.3/ 100

Confident

475 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)22%
Low(50–70)3%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomal
Familial diabetes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

H syndrome
0.83
neurodegenerative disease
0.44
dysosteosclerosis
0.38
Disorder of amino acid and other organic acid metabolism
0.37
generalized dystonia
0.35
acanthosis nigricans
0.33
alcohol drinking
0.32
systemic lupus erythematosus
0.31
hereditary disease
0.20
ovarian dysfunction
0.14

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

Protein function (UniProt)

Equilibrative nucleoside transporter 3

Uniporter that mediates the facilitative transport of nucleoside across lysosomal and mitochondrial membranes (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Functions as a non-electrogenic Na(+)-independent transporter (PubMed:15701636, PubMed:19164483, PubMed:28729424). Transport activity is pH-dependent and enhanced under acidic conditions, consistent with localization to acidic intracellular compartments (PubMed:15701636, PubMed:19164483, PubMed:28729424). Protons are not cotransported but likely modulate transport by altering the ionization state of the transporter which dictates its conformation, thereby regulating substrate permeability (PubMed:28729424). May direct the nucleoside transport from lysosomes to cytosol or cytosol to mitochondria to facilitate nucleic acid salvage pathways (PubMed:28729424). Transports nucleosides (adenosine, guanosine, uridine, thymidine, cytidine and inosine), deoxynucleosides (deoxyadenosine, deoxycytidine), purine nucleobases (adenine, guanine) and pyrimidine nucleobases (uracil) (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Also capable of transporting monoamine neurotransmitters dopamine, serotonin, noradrenaline and tyramine, as well as ATP (PubMed:19164483). Mediates nucleoside export from lysosomes in macrophages, thereby regulating macrophage function and number (By similarity). Also functions as a lysosomal urate exporter, contributing to intracellular urate disposal (PubMed:41476938). Regulates inflammasome activation via dual roles in urate and adenosine transport (PubMed:41476938)