Equilibrative nucleoside transporter 1: Difference between revisions

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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{PBB|geneid=2030}}
{{Infobox_gene}}
'''Equilibrative nucleoside transporter 1''' ('''ENT1''') is a [[protein]] that in humans is encoded by the ''SLC29A1'' [[gene]].<ref name="pmid8986748">{{cite journal | author = 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 }}</ref><ref name="pmid9344680">{{cite journal | author = 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 }}</ref> Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.<ref name="entrez"/>
'''Equilibrative nucleoside transporter 1''' ('''ENT1''') is a [[protein]] that in humans is encoded by the ''SLC29A1'' [[gene]].<ref name="pmid8986748">{{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 | display-authors = 6 | title = Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs | journal = Nature Medicine | volume = 3 | issue = 1 | pages = 89–93 | date = January 1997 | pmid = 8986748 | doi = 10.1038/nm0197-89 | s2cid = 10182379 }}</ref><ref name="pmid9344680">{{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 = October 1997 | pmid = 9344680 | doi = 10.1006/geno.1997.4928 }}</ref> Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.<ref name="entrez"/> Expressed on red blood cell surfaces, these variants make up the [[Augustine blood group system]].<ref name=":0" />


== Function ==
== 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 [[nucleoside]]s 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.<ref name="entrez">{{cite web | title = Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2030| accessdate = }}</ref>
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 [[nucleoside]]s 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.<ref name="entrez">{{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}}</ref>


==Genomics==
==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]].
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 ==
== Interactive pathway map ==
{{FluoropyrimidineActivity WP1601|highlight=Equilibrative_nucleoside_transporter_1}}
{{FluoropyrimidineActivity WP1601|highlight=Equilibrative_nucleoside_transporter_1}}


==Clinical==
==Clinical significance==


Mutations in this gene have been associated with [[H syndrome]], pigmented [[hypertrichosis]] with insulin dependent diabetes and [[Faisalabad histiocytosis]].<ref name="pmid22238637">{{cite journal | author = 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}}</ref>
Mutations in this gene have been associated with [[H syndrome]], pigmented [[hypertrichosis]] with insulin dependent diabetes and [[Faisalabad histiocytosis]].<ref name="pmid22238637">{{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 | display-authors = 6 | 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 | pmc = 3251605 | doi = 10.1371/journal.pone.0029708 | bibcode = 2012PLoSO...729708B | doi-access = free }}</ref>

Alleles of this gene make up the Augustine blood group system.<ref name=":0">{{cite journal | vauthors = Daniels G | title = The Augustine blood group system, 48 years in the making | journal = Immunohematology | year = 2019 | volume = 32 | issue = 3 | pages = 100–103 | doi = 10.21307/immunohematology-2019-053 | pmid = 27834482 | doi-access = free }}</ref> Some of the four known variants are highly [[Immunogenicity|immunogenic]] and [[antibodies]] against them can cause [[acute hemolytic transfusion reaction]] and [[Hemolytic disease of the newborn|hemolytic disease of the fetus and newborn]].<ref>{{cite journal | vauthors = Daniels G | title = An update on the Augustine blood group system | journal = Immunohematology | year = 2020 | volume = 35 | issue = 1 | pages = 1–2 | doi = 10.21307/immunohematology-2020-001 | pmid = 30908068 | doi-access = free }}</ref>


== See also ==
== See also ==
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* [[Equilibrative nucleoside transporter]]s
* [[Equilibrative nucleoside transporter]]s
* [[Nucleoside transporter]]s
* [[Nucleoside transporter]]s
*[[Augustine blood group system]]


== References ==
== References ==
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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal | author=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 = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
*{{cite journal | author=Griffiths M, Yao SY, Abidi F, ''et al.'' |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= |pmc=1218980}}
* {{cite journal | vauthors = Griffiths M, Yao SY, Abidi F, Phillips SE, Cass CE, Young JD, Baldwin SA | title = Molecular cloning and characterization of a nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside transporter from human placenta | journal = The Biochemical Journal | volume = 328 ( Pt 3) | issue = 3 | pages = 739–43 | date = December 1997 | pmid = 9396714 | pmc = 1218980 | doi = 10.1042/bj3280739 }}
*{{cite journal | author=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 = Lum PY, Ngo LY, Bakken AH, Unadkat JD | title = Human intestinal es nucleoside transporter: molecular characterization and nucleoside inhibitory profiles | journal = Cancer Chemotherapy and Pharmacology | volume = 45 | issue = 4 | pages = 273–8 | year = 2000 | pmid = 10755314 | doi = 10.1007/s002800050040 | s2cid = 25693616 }}
*{{cite journal | author=Sundaram M, Yao SY, Ingram JC, ''et al.'' |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 }}
* {{cite journal | vauthors = Sundaram M, Yao SY, Ingram JC, Berry ZA, Abidi F, Cass CE, Baldwin SA, Young JD | display-authors = 6 | title = Topology of a human equilibrative, nitrobenzylthioinosine (NBMPR)-sensitive nucleoside transporter (hENT1) implicated in the cellular uptake of adenosine and anti-cancer drugs | journal = The Journal of Biological Chemistry | volume = 276 | issue = 48 | pages = 45270–5 | date = November 2001 | pmid = 11584005 | doi = 10.1074/jbc.M107169200 | doi-access = free }}
*{{cite journal | author=SenGupta DJ, Lum PY, Lai Y, ''et al.'' |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 }}
* {{cite journal | vauthors = SenGupta DJ, Lum PY, Lai Y, Shubochkina E, Bakken AH, Schneider G, Unadkat JD | 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 | date = February 2002 | pmid = 11814344 | doi = 10.1021/bi015833w }}
*{{cite journal | author=Yao SY, Ng AM, Vickers MF, ''et al.'' |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 }}
* {{cite journal | vauthors = Yao SY, Ng AM, Vickers MF, Sundaram M, Cass CE, Baldwin SA, Young JD | 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 = The Journal of Biological Chemistry | volume = 277 | issue = 28 | pages = 24938–48 | date = July 2002 | pmid = 12006583 | doi = 10.1074/jbc.M200966200 | doi-access = free }}
*{{cite journal | author=Galmarini CM, Thomas X, Calvo F, ''et al.'' |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 }}
* {{cite journal | vauthors = Galmarini CM, Thomas X, Calvo F, Rousselot P, El Jafaari A, Cros E, Dumontet C | title = Potential mechanisms of resistance to cytarabine in AML patients | journal = Leukemia Research | volume = 26 | issue = 7 | pages = 621–9 | date = July 2002 | pmid = 12008078 | doi = 10.1016/S0145-2126(01)00184-9 }}
*{{cite journal | author=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 = 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 = The Journal of Biological Chemistry | volume = 277 | issue = 40 | pages = 37711–7 | date = October 2002 | pmid = 12097333 | doi = 10.1074/jbc.M204986200 | doi-access = free }}
*{{cite journal | author=Sankar N, Machado J, Abdulla P, ''et al.'' |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}}
* {{cite journal | vauthors = Sankar N, Machado J, Abdulla P, Hilliker AJ, Coe IR | title = Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity | journal = Nucleic Acids Research | volume = 30 | issue = 20 | pages = 4339–50 | date = October 2002 | pmid = 12384580 | pmc = 137128 | doi = 10.1093/nar/gkf564 }}
*{{cite journal | author=Reiman T, Clarke ML, Dabbagh L, ''et al.'' |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}}
* {{cite journal | vauthors = Reiman T, Clarke ML, Dabbagh L, Vsianska M, Coupland RW, Belch AR, Baldwin SA, Young JD, Cass CE, Mackey JR | display-authors = 6 | title = Differential expression of human equilibrative nucleoside transporter 1 (hENT1) protein in the Reed-Sternberg cells of Hodgkin's disease | journal = Leukemia & Lymphoma | volume = 43 | issue = 7 | pages = 1435–40 | date = July 2002 | pmid = 12389626 | doi = 10.1080/1042819022386725 | s2cid = 24497772 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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}}
* {{cite journal | vauthors = Mangravite LM, Xiao G, Giacomini KM | title = Localization of human equilibrative nucleoside transporters, hENT1 and hENT2, in renal epithelial cells | journal = American Journal of Physiology. Renal Physiology | volume = 284 | issue = 5 | pages = F902-10 | date = May 2003 | pmid = 12527552 | doi = 10.1152/ajprenal.00215.2002 }}
*{{cite journal | author=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, Baldwin SA, Cass CE, Young JD, Duszyk M | title = Coupling of CFTR-mediated anion secretion to nucleoside transporters and adenosine homeostasis in Calu-3 cells | journal = The Journal of Membrane Biology | volume = 192 | issue = 3 | pages = 169–79 | date = April 2003 | pmid = 12820662 | doi = 10.1007/s00232-002-1073-x | s2cid = 23060872 }}
*{{cite journal | author=Szkotak AJ, Ng AM, Man SF, ''et al.'' |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 }}
* {{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 = The Journal of Biological Chemistry | volume = 279 | issue = 6 | pages = 4490–7 | date = February 2004 | pmid = 14607828 | doi = 10.1074/jbc.M307938200 | doi-access = free }}
*{{cite journal | author=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, Counsell D, Campbell RD, Sanderson CM | 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 | date = January 2004 | pmid = 14667819 | doi = 10.1016/S0888-7543(03)00235-0 }}
*{{cite journal | author=Lehner B, Semple JI, Brown SE, ''et al.'' |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 }}
* {{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 = The Biochemical Journal | volume = 380 | issue = Pt 1 | pages = 131–7 | date = May 2004 | pmid = 14759222 | pmc = 1224139 | doi = 10.1042/BJ20031880 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{cite journal | author=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 | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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}}
{{refend}}
{{refend}}


{{NLM content}}
{{NLM content}}
{{Adenosinergics}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}



Latest revision as of 22:16, 11 November 2023

SLC29A1
Identifiers
AliasesSLC29A1, ENT1, Equilibrative nucleoside transporter 1, solute carrier family 29 member 1 (Augustine blood group)
External IDsOMIM: 602193 MGI: 1927073 HomoloGene: 37985 GeneCards: SLC29A1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 6: 44.22 – 44.23 MbChr 17: 45.59 – 45.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[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.[7]

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]

[[File:
FluoropyrimidineActivity_WP1601go to articlego to articlego to articlego to pathway articlego to pathway articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to PubChem Compoundgo to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to pathway articlego to pathway articlego to articlego to articlego to articlego to articlego to articlego to WikiPathwaysgo to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to article
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FluoropyrimidineActivity_WP1601go to articlego to articlego to articlego to pathway articlego to pathway articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to PubChem Compoundgo to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to pathway articlego to pathway articlego to articlego to articlego to articlego to articlego to articlego to WikiPathwaysgo to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to article
|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[edit]

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]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112759Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023942Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, et al. (January 1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nature Medicine. 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748. S2CID 10182379.
  6. ^ Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (October 1997). "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.
  7. ^ a b "Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1".
  8. ^ a b Daniels G (2019). "The Augustine blood group system, 48 years in the making". Immunohematology. 32 (3): 100–103. doi:10.21307/immunohematology-2019-053. PMID 27834482.
  9. ^ Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, et al. (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. Bibcode:2012PLoSO...729708B. doi:10.1371/journal.pone.0029708. PMC 3251605. PMID 22238637.
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Further reading[edit]

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