Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc29a3provided by MGI
Official Full Name: solute carrier family 29 (nucleoside transporters), member 3provided by MGI
Primary source: MGI:MGI:1918529
See related: Ensembl:ENSMUSG00000020100 AllianceGenome:MGI:1918529
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ent3; 4933435C21Rik
Summary: Predicted to enable nucleoside transmembrane transporter activity. Predicted to be involved in nucleoside transport. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi apparatus and plasma membrane. Predicted to be integral component of membrane. Human ortholog(s) of this gene implicated in histiocytosis-lymphadenopathy plus syndrome. Orthologous to human SLC29A3 (solute carrier family 29 member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 22.2), kidney adult (RPKM 16.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 31.38 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (60547851..60588624, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (60712072..60752849, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TLR7/8 stress response drives histiocytosis in SLC29A3 disorders.
Title: TLR7/8 stress response drives histiocytosis in SLC29A3 disorders.
These results identify ENT3 as a vital metabolite transporter that supports T cell homeostasis and activation by regulating lysosomal integrity and the availability of nucleosides.
Title: Equilibrative Nucleoside Transporter 3 Regulates T Cell Homeostasis by Coordinating Lysosomal Function with Nucleoside Availability.
adult stem cell deficits that drive ENT3-related abnormalities in mice, were identified.
Title: Adult stem cell deficits drive Slc29a3 disorders in mice.
study found mice lacking ENT3 developed spontaneous and progressive macrophage-dominated histiocytosis; in absence of ENT3, defective apoptotic cell clearance led to lysosomal nucleoside buildup, elevated intralysosomal pH and altered macrophage function
Title: Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.
Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the Faisalabad histiocytosis kindred and in two families reported to have familial Rosai-Dorfman disease.
Title: Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
broad selectivity, low affinity nucleoside transporter that can also transport adenine
Title: Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

AW987637 (e-PCR)
- UniSTS:208523

Slc29a3 (e-PCR), detects polymorphism
- UniSTS:547069

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytidine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables guanine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables monoamine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables neurotransmitter transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables nucleobase transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables nucleoside transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleoside transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables nucleoside transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables organic cation transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables uracil transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables uridine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adenosine transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenosine transport	ISO Inferred from Sequence Orthology more info
involved_in cytidine transport	ISO Inferred from Sequence Orthology more info
involved_in dopamine transport	ISO Inferred from Sequence Orthology more info
involved_in guanine transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in inosine transport	ISO Inferred from Sequence Orthology more info
involved_in norepinephrine transport	ISO Inferred from Sequence Orthology more info
involved_in nucleobase transport	ISO Inferred from Sequence Orthology more info
involved_in nucleoside transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleoside transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in nucleoside transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleoside transport	ISO Inferred from Sequence Orthology more info
involved_in purine nucleobase transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in pyrimidine nucleobase transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in serotonin transport	ISO Inferred from Sequence Orthology more info
involved_in uracil transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in uridine transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: equilibrative nucleoside transporter 3

Names: mENT3; solute carrier family 29 member 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_023596.3 → NP_076085.1 equilibrative nucleoside transporter 3

See identical proteins and their annotated locations for NP_076085.1

Status: VALIDATED

Source sequence(s)

AC153517, AK051317, CV557129

Consensus CDS

CCDS48571.1

UniProtKB/Swiss-Prot

B2RQD3, Q99P65

Related

ENSMUSP00000112685.2, ENSMUST00000117513.8

Conserved Domains (1) summary

cl15430
Location:57 → 475

Nucleoside_tran; Nucleoside transporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

60547851..60588624 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514120.4 → XP_006514183.1 equilibrative nucleoside transporter 3 isoform X3

Conserved Domains (1) summary

cl15430
Location:89 → 265

Nucleoside_tran; Nucleoside transporter
XM_006514119.4 → XP_006514182.1 equilibrative nucleoside transporter 3 isoform X2

Conserved Domains (1) summary

cl15430
Location:89 → 343

Nucleoside_tran; Nucleoside transporter
XM_006514118.5 → XP_006514181.1 equilibrative nucleoside transporter 3 isoform X1

Conserved Domains (1) summary

cl15430
Location:51 → 397

Nucleoside_tran; Nucleoside transporter