Equilibrative nucleoside transporter 1

Protein-coding gene in the species Homo sapiens

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; OMA:SLC29A1 - orthologs

Gene location (Human)

Chr.	Chromosome 6 (human)^[1]

Band	6p21.1	Start	44,219,553 bp^[1]
Band	6p21.1	End	44,234,142 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 17 (mouse)^[2]

Band	17\|17 B3	Start	45,585,200 bp^[2]
Band	17\|17 B3	End	45,599,606 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gastric mucosa

right coronary artery

apex of heart

right adrenal cortex

ascending aorta

body of stomach

right auricle

left adrenal cortex

muscle layer of sigmoid colon

Descending thoracic aorta

Top expressed in

gastrula

stroma of bone marrow

ankle joint

thymus

spermatocyte

calvaria

liver

lactiferous gland

muscle of thigh

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

^ 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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112759 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023942 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1".
^ ^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.
^ 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.
^ Daniels G (2020). "An update on the Augustine blood group system". Immunohematology. 35 (1): 1–2. doi:10.21307/immunohematology-2020-001. PMID 30908068.

Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Griffiths M, Yao SY, Abidi F, Phillips SE, Cass CE, Young JD, Baldwin SA (December 1997). "Molecular cloning and characterization of a nitrobenzylthioinosine-insensitive (ei) equilibrative nucleoside transporter from human placenta". The Biochemical Journal. 328 ( Pt 3) (3): 739–43. doi:10.1042/bj3280739. PMC 1218980. PMID 9396714.
Lum PY, Ngo LY, Bakken AH, Unadkat JD (2000). "Human intestinal es nucleoside transporter: molecular characterization and nucleoside inhibitory profiles". Cancer Chemotherapy and Pharmacology. 45 (4): 273–8. doi:10.1007/s002800050040. PMID 10755314. S2CID 25693616.
Sundaram M, Yao SY, Ingram JC, Berry ZA, Abidi F, Cass CE, et al. (November 2001). "Topology of a human equilibrative, nitrobenzylthioinosine (NBMPR)-sensitive nucleoside transporter (hENT1) implicated in the cellular uptake of adenosine and anti-cancer drugs". The Journal of Biological Chemistry. 276 (48): 45270–5. doi:10.1074/jbc.M107169200. PMID 11584005.
SenGupta DJ, Lum PY, Lai Y, Shubochkina E, Bakken AH, Schneider G, Unadkat JD (February 2002). "A single glycine mutation in the equilibrative nucleoside transporter gene, hENT1, alters nucleoside transport activity and sensitivity to nitrobenzylthioinosine". Biochemistry. 41 (5): 1512–9. doi:10.1021/bi015833w. PMID 11814344.
Yao SY, Ng AM, Vickers MF, Sundaram M, Cass CE, Baldwin SA, Young JD (July 2002). "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". The Journal of Biological Chemistry. 277 (28): 24938–48. doi:10.1074/jbc.M200966200. PMID 12006583.
Galmarini CM, Thomas X, Calvo F, Rousselot P, El Jafaari A, Cros E, Dumontet C (July 2002). "Potential mechanisms of resistance to cytarabine in AML patients". Leukemia Research. 26 (7): 621–9. doi:10.1016/S0145-2126(01)00184-9. PMID 12008078.
Lai Y, Bakken AH, Unadkat JD (October 2002). "Simultaneous expression of hCNT1-CFP and hENT1-YFP in Madin-Darby canine kidney cells. Localization and vectorial transport studies". The Journal of Biological Chemistry. 277 (40): 37711–7. doi:10.1074/jbc.M204986200. PMID 12097333.
Sankar N, Machado J, Abdulla P, Hilliker AJ, Coe IR (October 2002). "Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity". Nucleic Acids Research. 30 (20): 4339–50. doi:10.1093/nar/gkf564. PMC 137128. PMID 12384580.
Reiman T, Clarke ML, Dabbagh L, Vsianska M, Coupland RW, Belch AR, et al. (July 2002). "Differential expression of human equilibrative nucleoside transporter 1 (hENT1) protein in the Reed-Sternberg cells of Hodgkin's disease". Leukemia & Lymphoma. 43 (7): 1435–40. doi:10.1080/1042819022386725. PMID 12389626. S2CID 24497772.
Mangravite LM, Xiao G, Giacomini KM (May 2003). "Localization of human equilibrative nucleoside transporters, hENT1 and hENT2, in renal epithelial cells". American Journal of Physiology. Renal Physiology. 284 (5): F902-10. doi:10.1152/ajprenal.00215.2002. PMID 12527552.
Szkotak AJ, Ng AM, Man SF, Baldwin SA, Cass CE, Young JD, Duszyk M (April 2003). "Coupling of CFTR-mediated anion secretion to nucleoside transporters and adenosine homeostasis in Calu-3 cells". The Journal of Membrane Biology. 192 (3): 169–79. doi:10.1007/s00232-002-1073-x. PMID 12820662. S2CID 23060872.
Lai Y, Tse CM, Unadkat JD (February 2004). "Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs". The Journal of Biological Chemistry. 279 (6): 4490–7. doi:10.1074/jbc.M307938200. PMID 14607828.
Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (January 2004). "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". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
Endres CJ, Sengupta DJ, Unadkat JD (May 2004). "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". The Biochemical Journal. 380 (Pt 1): 131–7. doi:10.1042/BJ20031880. PMC 1224139. PMID 14759222.

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

Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)

By group

SLC1–10

(1):	high affinity glutamate and neutral amino-acid transporter SLC1A1 2 3 4 5 6 7
(2):	facilitative GLUT transporter SLC2A1 2 3 4 5 6 7 8 9 10 11 12 13 14
(3):	heavy subunits of heterodimeric amino-acid transporters SLC3A1 2
(4):	bicarbonate transporter SLC4A1 2 3 4 5 6 7 8 9 10 11
(5):	sodium glucose cotransporter SLC5A1 2 3 4 5 6 7 8 9 10 11 12
(6):	sodium- and chloride- dependent sodium:neurotransmitter symporters SLC6A1 SLC6A2 SLC6A3 SLC6A4 SLC6A5 SLC6A6 SLC6A7 SLC6A8 SLC6A9 SLC6A10 SLC6A11 SLC6A12 SLC6A13 SLC6A14 SLC6A15 SLC6A16 SLC6A17 SLC6A18 SLC6A19 SLC6A20
(7):	cationic amino-acid transporter/glycoprotein-associated SLC7A1 SLC7A2 SLC7A3 SLC7A4 glycoprotein-associated/light or catalytic subunits of heterodimeric amino-acid transporters SLC7A5 SLC7A6 SLC7A7 SLC7A8 SLC7A9 SLC7A10 SLC7A11 SLC7A13 SLC7A14
(8):	Na⁺/Ca²⁺ exchanger SLC8A1 SLC8A2 SLC8A3
(9):	Na⁺/H⁺ exchanger SLC9A1 SLC9A2 SLC9A3 SLC9A4 SLC9A5 SLC9A6 SLC9A7 SLC9A8 SLC9A9 SLC9A10 SLC9A11
(10):	sodium bile salt cotransport SLC10A1 SLC10A2 SLC10A3 SLC10A4 SLC10A5 SLC10A6 SLC10A7 10A1 10A2 10A3 10A7

SLC11–20

(11):	proton coupled metal ion transporter SLC11A1 SLC11A2 11A3
(12):	electroneutral cation-Cl cotransporter SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC12A8 SLC12A9
(13):	human Na⁺-sulfate/carboxylate cotransporter SLC13A1 SLC13A2 SLC13A3 SLC13A4 SLC13A5
(14):	urea transporter SLC14A1 SLC14A2
(15):	proton oligopeptide cotransporter SLC15A1 SLC15A2 SLC15A3 SLC15A4
(16):	monocarboxylate transporter SLC16A1 SLC16A2 SLC16A3 SLC16A4 SLC16A5 SLC16A6 SLC16A7 SLC16A8 SLC16A9 SLC16A10 SLC16A11 SLC16A12 SLC16A13 SLC16A14
(17):	Vesicular glutamate transporter 1 SLC17A1 SLC17A2 SLC17A3 SLC17A4 SLC17A5 SLC17A6 SLC17A7 SLC17A8 SLC17A9
(18):	vesicular monoamine transporter SLC18A1 SLC18A2 SLC18A3
(19):	folate/thiamine transporter SLC19A1 SLC19A2 SLC19A3
(20):	type III Na⁺-phosphate cotransporter SLC20A1 SLC20A2

SLC21–30

(21):	Organic anion-transporting polypeptide SLCO1A2 SLCO1B1 SLCO1B3 SLCO1B4 SLCO1C1 SLCO2A1 SLCO2B1 SLCO3A1 SLCO4A1 SLCO4C1 SLCO5A1(SLCO6A1)
(22):	organic cation/anion/zwitterion transporter SLC22A1 SLC22A2 SLC22A3 SLC22A4 SLC22A5 SLC22A6 SLC22A7 SLC22A8 SLC22A9 SLC22A10 SLC22A11 SLC22A12 SLC22A13 SLC22A14 SLC22A15 SLC22A16 SLC22A17 SLC22A18 SLC22A19 SLC22A20
(23):	Na+-dependent ascorbic acid transporter SLC23A1 SLC23A2 SLC23A3 SLC23A4
(24):	Na⁺/(Ca²⁺-K⁺) exchanger SLC24A1 SLC24A2 SLC24A3 SLC24A4 SLC24A5 SLC24A6
(25):	mitochondrial carrier SLC25A1 SLC25A2 SLC25A3 SLC25A4 SLC25A5 SLC25A6 SLC25A7 SLC25A8 SLC25A9 SLC25A10 SLC25A11 SLC25A12 SLC25A13 SLC25A14 SLC25A15 SLC25A16 SLC25A17 SLC25A18 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A23 SLC25A24 SLC25A25 SLC25A26 SLC25A27 SLC25A28 SLC25A29 SLC25A30 SLC25A31 SLC25A32 SLC25A33 SLC25A34 SLC25A35 SLC25A36 SLC25A37 SLC25A38 SLC25A39 SLC25A40 SLC25A41 SLC25A42 SLC25A43 SLC25A44 SLC25A45 SLC25A46
(26):	multifunctional anion exchanger SLC26A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A6 SLC26A7 SLC26A8 SLC26A9 SLC26A10 SLC26A11
(27):	fatty acid transport proteins SLC27A1 SLC27A2 SLC27A3 SLC27A4 SLC27A5 SLC27A6
(28):	Na⁺-coupled nucleoside transport (SLC28A1 SLC28A2 SLC28A3
(29):	facilitative nucleoside transporter SLC29A1 SLC29A2 SLC29A3 SLC29A4
(30):	zinc efflux SLC30A1 SLC30A2 SLC30A3 SLC30A4 SLC30A5 SLC30A6 SLC30A7 SLC30A8 SLC30A9 SLC30A10

SLC31–40

(31):	copper transporter SLC31A1
(32):	Vesicular glutamate transporter 1 SLC32A1
(33):	Acetyl-CoA transporter SLC33A1
(34):	type II Na⁺-phosphate cotransporter SLC34A1 SLC34A2 SLC34A3
(35):	nucleoside-sugar transporter SLC35A1 SLC35A2 SLC35A3 SLC35A4 SLC35A5 SLC35B1 SLC35B2 SLC35B3 SLC35B4 SLC35C1 SLC35C2 SLC35D1 SLC35D2 SLC35D3 SLC35E1 SLC35E2 SLC35E3 SLC35E4
(36):	proton-coupled amino-acid transporter SLC36A1 SLC36A2 SLC36A3 SLC36A436A2
(37):	sugar-phosphate/phosphate exchanger SLC37A1 SLC37A2 SLC37A3 SLC37A4
(38):	System A & N, sodium-coupled neutral amino-acid transporter SLC38A1 SLC38A2 SLC38A3 SLC38A4 SLC38A5 SLC38A6 SLC38A10
(39):	metal ion transporter SLC39A1 SLC39A2 SLC39A3 SLC39A4 SLC39A5 SLC39A6 SLC39A7 SLC39A8 SLC39A9 SLC39A10 SLC39A11 SLC39A12 SLC39A13 SLC39A14
(40):	basolateral iron transporter SLC40A1

SLC41–48

(41):	Magnesium transporter E SLC41A1 SLC41A2 SLC41A3
(42):	Ammonia transporter RhAG RhBG RhCG
(43):	Na⁺-independent, system-L like amino-acid transporter SLC43A1 SLC43A2 SLC43A3
(44):	Choline-like transporter SLC44A1 SLC44A2 SLC44A3 SLC44A4 SLC44A5
(45):	Putative sugar transporter SLC45A1 SLC45A2 SLC54A3 SLC45A4
(46):	Folate transporter SLC46A1 SLC46A2
(47):	multidrug and toxin extrusion SLC47A1 SLC47A2
(48):	Heme transporter

SLCO1–4
O1A2 O1B1 O1B3 O2B1 O431 O4A1

Ion pumps

Symporter, Cotransporter	Na⁺/K⁺,Cl⁻ Na⁺/P_i3 Na⁺/Cl⁻ Na⁺/glucose Na⁺/I⁻ Cl⁻/K⁺ 4 5
Antiporter (exchanger)	Na⁺/H⁺ Na⁺/Ca²⁺ Na⁺/(Ca²⁺-K⁺) - Cl⁻/HCO⁻ ₃ (Band 3) Cl⁻-formate Cl⁻-oxalate