Equilibrative nucleoside transporter 3

SLC29A3
Identifiers
AliasesSLC29A3, ENT3, HCLAP, HJCD, PHID, solute carrier family 29 member 3
External IDsOMIM: 612373; MGI: 1918529; GeneCards: SLC29A3
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001174098
NM_018344
NM_001363518

NM_023596

RefSeq (protein)

NP_001167569
NP_060814
NP_001350447

NP_076085

Location (UCSC)Chr 10: 71.32 – 71.38 MbChr 10: 60.55 – 60.59 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Equilibrative nucleoside transporter 3 (ENT3) is a protein that in humans is encoded by the gene SLC29A3. As a equilibrative nucleoside transporter, this protein functions to transport nucleosides and similar molecules, with ENT3 specifically transporting across the membranes of the lysosomes and mitochondria. This protein plays multiple important roles including regulating macrophages, participates in urate disposal, and it may also play a part in nucleic acid salvage pathways.

Function

This protein is a uniporter which is capable of transporting a wide variety of molecules, including many nucleosides, deoxynucleosides, nucleobases, ATP, urate, and monoamine neurotransmitters. Unlike its relatives ENT1 (SLC29A1) and ENT2 (SLC29A2) which are primarily found in the cell membrane, ENT3 has only been found their in specific placental cells outside of disease states. Instead, ENT3 is primarily located in membranes of the lysosomes, mitochondria, and (late) endosomes, and its activity is enhanced by low pH.

The role of ENT3 hasn't been as well characterized as ENT1 and ENT2, but it seems to play a role in a number of different pathways.

Knock-out mice display an excessive numbers of macrophages in their tissue (histiocytosis), and a build-up of nucleosides in the lysosomes. By age 8 weeks, their lymph nodes and spleens grew abnormally large, and they died younger than their littermates.

Medical Significance

Pathogenic mutations in SLC29A3 have been associated with a number of disorders involving dysfunctional tissue macrophages (histiocytosis) that were previous thought to be distinct, now designated under the umbrella term histiocytosis-lymphadenopathy plus syndrome. This is inherited in a autosomal recessive manner, and its most consistent signs across subtypes are histologic features.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198246 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020100 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 4 5 6 7 8 9 "Equilibrative nucleoside transporter 3". uniprot.org. UniProt consortium. Retrieved 2026-10-26.
  6. 1 2 3 4 5 Boswell-Casteel RC, Hays FA (2017-01-02). "Equilibrative nucleoside transporters—A review" (PDF). Nucleosides, Nucleotides and Nucleic Acids. 36 (1): 7–30. doi:10.1080/15257770.2016.1210805.
  7. 1 2 McKusick VA, Vernon HJ (2024-04-25). "HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME". OMIM. Johns Hopkins university. Retrieved 2026-10-26.