| 释义 |
- Function
- Genomics
- Interactive pathway map
- Clinical
- See also
- References
- Further reading
{{Infobox_gene}}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 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] GenomicsThe 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 {{FluoropyrimidineActivity WP1601|highlight=Equilibrative_nucleoside_transporter_1}}ClinicalMutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.[4] See also - Solute carrier family
- Equilibrative nucleoside transporters
- Nucleoside transporters
References 1. ^{{cite journal |vauthors=Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA | title = Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs | journal = Nat Med | volume = 3 | issue = 1 | pages = 89–93 |date=Jan 1997 | pmid = 8986748 | pmc = | doi = 10.1038/nm0197-89 }}
2. ^{{cite journal |vauthors=Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE | title = Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2 | journal = Genomics | volume = 45 | issue = 2 | pages = 459–60 |date=Feb 1998 | pmid = 9344680 | pmc = | doi = 10.1006/geno.1997.4928 }}
3. ^1 {{cite web | title = Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2030| accessdate = }}
4. ^{{cite journal |vauthors=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 | title = A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant | journal = PLoS ONE | volume = 7 | issue = 1 | pages = e29708 | year = 2012 | pmid = 22238637 | doi = 10.1371/journal.pone.0029708 | pmc=3251605}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
- {{cite journal |vauthors=Griffiths M, Yao SY, Abidi F |title=Molecular cloning and characterization of a nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside transporter from human placenta. |journal=Biochem. J. |volume=328 |issue= 3|pages= 739–43 |year= 1998 |pmid= 9396714 |doi= 10.1042/bj3280739|pmc=1218980|display-authors=etal}}
- {{cite journal |vauthors=Lum PY, Ngo LY, Bakken AH, Unadkat JD |title=Human intestinal es nucleoside transporter: molecular characterization and nucleoside inhibitory profiles. |journal=Cancer Chemother. Pharmacol. |volume=45 |issue= 4 |pages= 273–8 |year= 2000 |pmid= 10755314 |doi=10.1007/s002800050040 }}
- {{cite journal |vauthors=Sundaram M, Yao SY, Ingram JC |title=Topology of a human equilibrative, nitrobenzylthioinosine (NBMPR)-sensitive nucleoside transporter (hENT1) implicated in the cellular uptake of adenosine and anti-cancer drugs. |journal=J. Biol. Chem. |volume=276 |issue= 48 |pages= 45270–5 |year= 2002 |pmid= 11584005 |doi= 10.1074/jbc.M107169200 |display-authors=etal}}
- {{cite journal |vauthors=SenGupta DJ, Lum PY, Lai Y |title=A single glycine mutation in the equilibrative nucleoside transporter gene, hENT1, alters nucleoside transport activity and sensitivity to nitrobenzylthioinosine. |journal=Biochemistry |volume=41 |issue= 5 |pages= 1512–9 |year= 2002 |pmid= 11814344 |doi=10.1021/bi015833w |display-authors=etal}}
- {{cite journal |vauthors=Yao SY, Ng AM, Vickers MF |title=Functional and molecular characterization of nucleobase transport by recombinant human and rat equilibrative nucleoside transporters 1 and 2. Chimeric constructs reveal a role for the ENT2 helix 5-6 region in nucleobase translocation. |journal=J. Biol. Chem. |volume=277 |issue= 28 |pages= 24938–48 |year= 2002 |pmid= 12006583 |doi= 10.1074/jbc.M200966200 |display-authors=etal}}
- {{cite journal |vauthors=Galmarini CM, Thomas X, Calvo F |title=Potential mechanisms of resistance to cytarabine in AML patients. |journal=Leuk. Res. |volume=26 |issue= 7 |pages= 621–9 |year= 2002 |pmid= 12008078 |doi=10.1016/S0145-2126(01)00184-9 |display-authors=etal}}
- {{cite journal |vauthors=Lai Y, Bakken AH, Unadkat JD |title=Simultaneous expression of hCNT1-CFP and hENT1-YFP in Madin-Darby canine kidney cells. Localization and vectorial transport studies. |journal=J. Biol. Chem. |volume=277 |issue= 40 |pages= 37711–7 |year= 2002 |pmid= 12097333 |doi= 10.1074/jbc.M204986200 }}
- {{cite journal |vauthors=Sankar N, Machado J, Abdulla P |title=Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity. |journal=Nucleic Acids Res. |volume=30 |issue= 20 |pages= 4339–50 |year= 2002 |pmid= 12384580 |doi=10.1093/nar/gkf564 |pmc=137128|display-authors=etal}}
- {{cite journal |vauthors=Reiman T, Clarke ML, Dabbagh L |title=Differential expression of human equilibrative nucleoside transporter 1 (hENT1) protein in the Reed-Sternberg cells of Hodgkin's disease. |journal=Leuk. Lymphoma |volume=43 |issue= 7 |pages= 1435–40 |year= 2003 |pmid= 12389626 |doi= 10.1080/1042819022386725|display-authors=etal}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal}}
- {{cite journal |vauthors=Mangravite LM, Xiao G, Giacomini KM |title=Localization of human equilibrative nucleoside transporters, hENT1 and hENT2, in renal epithelial cells. |journal=Am. J. Physiol. Renal Physiol. |volume=284 |issue= 5 |pages= F902–10 |year= 2003 |pmid= 12527552 |doi= 10.1152/ajprenal.00215.2002 }}
- {{cite journal |vauthors=Szkotak AJ, Ng AM, Man SF |title=Coupling of CFTR-mediated anion secretion to nucleoside transporters and adenosine homeostasis in Calu-3 cells. |journal=J. Membr. Biol. |volume=192 |issue= 3 |pages= 169–79 |year= 2003 |pmid= 12820662 |doi=10.1007/s00232-002-1073-x |display-authors=etal}}
- {{cite journal |vauthors=Lai Y, Tse CM, Unadkat JD |title=Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs. |journal=J. Biol. Chem. |volume=279 |issue= 6 |pages= 4490–7 |year= 2004 |pmid= 14607828 |doi= 10.1074/jbc.M307938200 }}
- {{cite journal |vauthors=Lehner B, Semple JI, Brown SE |title=Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. |journal=Genomics |volume=83 |issue= 1 |pages= 153–67 |year= 2004 |pmid= 14667819 |doi=10.1016/S0888-7543(03)00235-0 |display-authors=etal}}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
- {{cite journal |vauthors=Endres CJ, Sengupta DJ, Unadkat JD |title=Mutation of leucine-92 selectively reduces the apparent affinity of inosine, guanosine, NBMPR [S6-(4-nitrobenzyl)-mercaptopurine riboside] and dilazep for the human equilibrative nucleoside transporter, hENT1. |journal=Biochem. J. |volume=380 |issue= Pt 1 |pages= 131–7 |year= 2004 |pmid= 14759222 |doi= 10.1042/BJ20031880 |pmc=1224139}}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928|display-authors=etal}}
{{refend}}{{NLM content}}{{Membrane transport proteins}} 2 : Solute carrier family|Neurotransmitter transporters |