Equilibrative nucleoside transporter 1

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Solute carrier family 29 (nucleoside transporters), member 1
Identifiers
Symbols SLC29A1 ; ENT1
External IDs OMIM602193 MGI1927073 HomoloGene37985 ChEMBL: 1997 GeneCards: SLC29A1 Gene
RNA expression pattern
PBB GE SLC29A1 201801 s at tn.png
PBB GE SLC29A1 201802 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2030 63959
Ensembl ENSG00000112759 ENSMUSG00000023942
UniProt Q99808 Q9JIM1
RefSeq (mRNA) NM_001078174 NM_001199113
RefSeq (protein) NP_001071642 NP_001186042
Location (UCSC) Chr 6:
44.19 – 44.2 Mb
Chr 17:
45.59 – 45.6 Mb
PubMed search [1] [2]

Equilibrative nucleoside transporter 1 (ENT1) is a protein that in humans is encoded by the SLC29A1 gene.[1][2] Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.[3]

Function[edit]

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 nitrobenzylmercaptopurine ribonucleoside (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.[3]

Genomics[edit]

The gene encoding this protein is located on the short arm of chromosome 6 at 6p21.2-p21.1 on the Watson (plus) strand. It is 14,647 bases in length. The encoded protein has 456 amino acid residues with 11 predicted transmembrane domains. The predicted molecular weight is 50.219 kiloDaltons. The protein is post translationally glycosylated and expressed in all tissue with the apparent exception of skeletal muscle. The highest levels are found in the liver, heart, testis, spleen, lung, kidney and brain.

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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FluoropyrimidineActivity_WP1601 go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to PubChem Compound go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to WikiPathways go to article go to article go to article go to article go to article go to article go to article go to article go to article
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FluoropyrimidineActivity_WP1601 go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to PubChem Compound go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to WikiPathways go to article go to article go to article go to article go to article go to article go to article go to article go to article
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Fluorouracil (5-FU) Activity edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601". 

Clinical[edit]

Mutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.[4]

See also[edit]

References[edit]

  1. ^ Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA (Jan 1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nat Med 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748. 
  2. ^ Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (Feb 1998). "Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2". Genomics 45 (2): 459–60. doi:10.1006/geno.1997.4928. PMID 9344680. 
  3. ^ a b "Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1". 
  4. ^ Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL (2012). "A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant". PLoS ONE 7 (1): e29708. doi:10.1371/journal.pone.0029708. PMID 22238637. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.