SLC29A1
Identifiers
Aliases	SLC29A1, ENT1, Equilibrative nucleoside transporter 1, solute carrier family 29 member 1 (Augustine blood group)
External IDs	OMIM: 602193 MGI: 1927073 HomoloGene: 37985 GeneCards: SLC29A1
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.1 Start 44,219,553 bp[1] End 44,234,142 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 B3 Start 45,585,200 bp[2] End 45,599,606 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa right coronary artery ascending aorta body of stomach popliteal artery left coronary artery body of pancreas left ventricle fundus subcutaneous adipose tissue Top expressed in ankle joint lip thymus spermatocyte calvaria liver left lobe of liver yolk sac adrenal gland ankle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleoside transmembrane transporter activity Cellular component postsynapse integral component of membrane plasma membrane basolateral plasma membrane integral component of plasma membrane apical plasma membrane membrane presynapse Biological process nucleoside transport uridine transport sleep lactation nucleoside transmembrane transport nucleobase-containing compound metabolic process cellular response to hypoxia excitatory postsynaptic potential cellular response to glucose stimulus transport neurotransmitter reuptake Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2030 63959 Ensembl ENSG00000112759 ENSMUSG00000023942 UniProt Q99808 Q9JIM1 RefSeq (mRNA) NM_001078174 NM_001078175 NM_001078176 NM_001078177 NM_001304462 NM_001304463 NM_001304465 NM_001304466 NM_004955 NM_001372327 NM_001199113 NM_001199114 NM_001199115 NM_001199116 NM_022880 NM_001357771 RefSeq (protein) NP_001071643 NP_001071645 NP_001291391 NP_001291394 NP_001291395 NP_001359256 NP_001186042 NP_001186043 NP_001186044 NP_001186045 NP_075018 NP_001344700 NP_001363916 NP_001363917 NP_001363918 NP_001363919 NP_001363920 NP_001363921 NP_001363922 NP_001363923 NP_001363924 NP_001363925 NP_001363926 NP_001363927 Location (UCSC) Chr 6: 44.22 – 44.23 Mb Chr 17: 45.59 – 45.6 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Equilibrative nucleoside transporter 1 (ENT1) is a protein that in humans is encoded by the SLC29A1 gene.^[5][6] Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.^[7] Expressed on red blood cell surfaces, these variants make up the Augustine blood group system.^[8]

Function

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.^[7]

Genomics

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

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

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|alt=Fluorouracil (5-FU) Activity edit]]

Fluorouracil (5-FU) Activity edit

1. ^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

Clinical significance

Mutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.^[9]

Alleles of this gene make up the Augustine blood group system.^[8] Some of the four known variants are highly immunogenic and antibodies against them can cause acute hemolytic transfusion reaction and hemolytic disease of the fetus and newborn.^[10]