SLC29A1

Chr 6

solute carrier family 29 member 1 (Augustine blood group)

Also known as: AUG, ENT1, hENT1

NCBI Gene: 2030ENSG00000112759UniProt: Q99808

This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

64
ClinVar variants
10
Pathogenic / LP
0.90
pLI score· haploinsufficient
0
Active trials
Clinical Summary— SLC29A1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.90). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 42 VUS of 64 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.38LOEUF
pLI 0.901
Z-score 3.60
OE 0.15 (0.07–0.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.72Z-score
OE missense 0.87 (0.78–0.98)
228 obs / 260.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.15 (0.07–0.38)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.87 (0.78–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 3 / 20.7Missense obs/exp: 228 / 260.7Syn Z: 0.74

ClinVar Variant Classifications

64 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS42
Likely Benign8
Benign4
9
Pathogenic
1
Likely Pathogenic
42
VUS
8
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
8
0
9
Likely Pathogenic
0
0
1
0
1
VUS
0
41
1
0
42
Likely Benign
0
3
4
1
8
Benign
0
0
3
1
4
Total04517264

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC29A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The role of alternative splicing in cancer: From oncogenesis to drug resistance.
Sciarrillo R et al.·Drug Resist Updat
2020Review
Apoptotic brown adipocytes enhance energy expenditure via extracellular inosine.
Niemann B et al.·Nature
2022
Genetic polymorphisms of SLC28A3, SLC29A1 and RRM1 predict clinical outcome in patients with metastatic breast cancer receiving gemcitabine plus paclitaxel chemotherapy.
Lee SY et al.·Eur J Cancer
2014Clinical trial
SLC29A1 polymorphism and prediction of anaemia severity in patients with chronic hepatitis C receiving triple therapy with telaprevir.
Milazzo L et al.·J Antimicrob Chemother
2015Cohort
A quiescence-like/TGF-β1-specific CRISPRi screen reveals drug uptake transporters as secondary targets of kinase inhibitors in AML.
Rahimian E et al.·Drug Resist Updat
2025
Functional role of the polymorphic 647 T/C variant of ENT1 (SLC29A1) and its association with alcohol withdrawal seizures.
Kim JH et al.·PLoS One
2011Functional
Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29).
Pastor-Anglada M et al.·Int J Mol Sci
2022Review
Identification of a Genomic Region between SLC29A1 and HSP90AB1 Associated with Risk of Bevacizumab-Induced Hypertension: CALGB 80405 (Alliance).
Li M et al.·Clin Cancer Res
2018
Potential role of CMPK1, SLC29A1, and TLE4 polymorphisms in gemcitabine-based chemotherapy in HER2-negative metastatic breast cancer patients: pharmacogenetic study results from the prospective randomized phase II study of eribulin plus gemcitabine versus paclitaxel plus gemcitabine (KCSG-BR-13-11).
Cho EH et al.·ESMO Open
2021Clinical trial
Renal nucleoside transporters: physiological and clinical implications.
Elwi AN et al.·Biochem Cell Biol
2006Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
SLC29A1/ENT1 and SLC29A3/ENT3 differentially regulate autophagy.
Bissa B et al.·Autophagy
2026
Solute Carrier Gene Polymorphism (SLC29A1) in Relation to Treatment Outcome and Hematological Changes in Chronic Hepatitis C Patients Treated With Direct Acting Antivirals Plus Ribavirin.
Abdel-Samiee M et al.·J Med Virol
2025Cohort
SLC29A1 and SLC29A2 are human nicotinamide cell membrane transporters.
Chen M et al.·Nat Commun
2025🔓 Open Access
Frequency Distributions of Alleles and Genotypes and Lung Cancer Risk of Polymorphisms DCK, SLC29A1, and SLC29A3 in South Indian Healthy Population.
T D et al.·Cureus
2024🔓 Open Access
Development of a Novel HEK293 Cell Model Lacking SLC29A1 to Study the Pharmacology of Endogenous SLC29A2-Encoded Equilibrative Nucleoside Transporter Subtype 2.
Shahid N et al.·Drug Metab Dispos
2024Functional
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools