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Solute Carrier Family 29, Member 3 (SLC29A3)

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ENT3; Equilibrative nucleoside transporter 3

Solute Carrier Family 29, Member 3 (SLC29A3)
CCC G578
HGNC 23096
MGI 1918529
PubMed 23530176
RGD 727811
UniProt Q9BZD2
SLC29A3 encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.
Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Solute Carrier Family 29, Member 3 (SLC29A3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Solute Carrier Family 29, Member 3 (SLC29A3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Solute Carrier Family 29, Member 3 (SLC29A3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Solute Carrier Family 29, Member 3 (SLC29A3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Solute Carrier Family 29, Member 3 (SLC29A3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Solute Carrier Family 29, Member 3 (SLC29A3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Solute Carrier Family 29, Member 3 (SLC29A3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Solute Carrier Family 29, Member 3 (SLC29A3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Solute Carrier Family 29, Member 3 (SLC29A3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Solute Carrier Family 29, Member 3 (SLC29A3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Solute Carrier Family 29, Member 3 (SLC29A3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Solute Carrier Family 29, Member 3 (SLC29A3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Solute Carrier Family 29, Member 3 (SLC29A3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Solute Carrier Family 29, Member 3 (SLC29A3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Solute Carrier Family 29, Member 3 (SLC29A3) ELISA Kit Customized Service Offer
  1. "The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms."Mol. Membr. Biol. 18:53-63(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity."Nucleic Acids Res. 30:4339-4350(2002) [PubMed] [Europe PMC] [Abstract]
  3. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and comparative analysis of human chromosome 10." Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes."J. Biol. Chem. 280:15880-15887(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability."J. Biol. Chem. 285:28343-28352(2010) [PubMed] [Europe PMC] [Abstract]
  10. "The H syndrome is caused by mutations in the nucleoside transporter hENT3."Am. J. Hum. Genet. 83:529-534(2008) [PubMed] [Europe PMC] [Abstract]
  11. "SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway."Hum. Mol. Genet. 18:2257-2265(2009) [PubMed] [Europe PMC] [Abstract]
  12. "H syndrome: novel and recurrent mutations in SLC29A3."Br. J. Dermatol. 162:1132-1134(2010) [PubMed] [Europe PMC] [Abstract]
  13. "Expanding the clinical spectrum of SLC29A3 gene defects."Eur. J. Med. Genet. 53:309-313(2010) [PubMed] [Europe PMC] [Abstract]
  14. "Early-onset sensorineural hearing loss is a prominent feature of H syndrome."Int. J. Pediatr. Otorhinolaryngol. 74:825-827(2010) [PubMed] [Europe PMC] [Abstract]
  15. "The H syndrome: two novel mutations affecting the same amino acid residue of hENT3."J. Dermatol. Sci. 57:59-61(2010) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease." PLoS Genet. 6:E1000833-E1000833(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype."Eur. J. Med. Genet. 55:56-58(2012) [PubMed] [Europe PMC] [Abstract]