SLC29A1

SLC29A1
Identifiers
Aliases	SLC29A1, ENT1, Equilibrative nucleoside transporter 1, solute carrier family 29 member 1 (Augustine blood group)
External IDs	MGI: 1927073 HomoloGene: 37985 GeneCards: SLC29A1
Gene location (Human)
Chr.	Chromosome 6 (human)
End	44,234,151 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	45,599,606 bp
RNA expression pattern
	; ;
	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;
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;
	Sources:Amigo / QuickGO
Orthologs
	2030
	63959
	ENSG00000112759
	ENSMUSG00000023942
	Q99808
	Q9JIM1
NM_001078174; NM_001078175; NM_001078176; NM_001078177; NM_001304462;
	NM_001304463; NM_001304465; NM_001304466; NM_004955
	NM_001199113; NM_001199114; NM_001199115; NM_001199116; NM_022880
NP_001071643; NP_001071645; NP_001291391; NP_001291392; NP_001291394;
	NP_001291395
	NP_001186042; NP_001186043; NP_001186044; NP_001186045; NP_075018
	Wikidata
View/Edit Human	View/Edit Mouse

equilibrative nucleoside transporter 1

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/10/20 23:05:05」(JST)

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[Wiki en表示]

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]

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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|{{{bSize}}}px|alt=Fluorouracil (5-FU) Activity edit]]

File:FluoropyrimidineActivity_WP1601.png

Fluorouracil (5-FU) Activity edit

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

Clinical

Mutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.^[8]

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:".
^ "Mouse PubMed Reference:".
^ 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. PMID 8986748. doi:10.1038/nm0197-89.
^ 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. PMID 9344680. doi:10.1006/geno.1997.4928.
^ ^a ^b "Entrez Gene: SLC29A1 solute carrier family 29 (nucleoside transporters), member 1".
^ 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. PMC 3251605 . PMID 22238637. doi:10.1371/journal.pone.0029708.

English Journal

Aberrant methylation of HTATIP2 and UCHL1 as a predictive biomarker for cholangiocarcinoma.

Nanok C1, Jearanaikoon P1, Proungvitaya S1, Limpaiboon T1.
Molecular medicine reports.Mol Med Rep.2018 Mar;17(3):4145-4153. doi: 10.3892/mmr.2017.8319. Epub 2017 Dec 19.
PMID 29359783

Expression and purification of human and Saccharomyces cerevisiae equilibrative nucleoside transporters.

Boswell-Casteel RC1, Johnson JM1, Roe-Žurž Z2, Duggan KD1, Schmitz H1, Hays FA3.
Protein expression and purification.Protein Expr Purif.2018 Feb;142:68-74. doi: 10.1016/j.pep.2017.09.002. Epub 2017 Sep 14.
PMID 28918196

Whole-Exome Sequencing Identifies the 6q12-q16 Linkage Region and a Candidate Gene, TTK, for Pulmonary Nontuberculous Mycobacterial Disease.

Chen F1, Szymanski EP2, Olivier KN3, Liu X4, Tettelin H4, Holland SM2, Duggal P1.
American journal of respiratory and critical care medicine.Am J Respir Crit Care Med.2017 Dec 15;196(12):1599-1604. doi: 10.1164/rccm.201612-2479OC.
PMID 28777004

Japanese Journal

Gene expression profile of side population cells in human oral cancer cell line SCC-4

Journal of Osaka Dental University 49(2), 205-217, 2015
NAID 110010000477

Identification of Primary Equilibrative Nucleoside Transporter 1 mRNA Isoforms Resulting from Alternative Promoter Usage in Human Hepatocytes

Drug Metabolism and Pharmacokinetics 29(4), 325-332, 2014
NAID 130004463392

Impact of Solute Carrier Family 29 Member 1 (SLC29A1) Single Nucleotide Polymorphisms on mRNA Expression in Peripheral Blood Mononuclear Cells

Biological & pharmaceutical bulletin 36(1), 144-146, 2013-01
NAID 40019536224

Related Pictures

Anti-SLC29A1 Antibody Products | Biocompare.com Anti-UPF1 Antibody Products from antibodies-online | Biocompare.com anti-SLC29A1 Antikörper | Produkt Nr. ABIN4308329 Human Cells Human SLC29A1 Lysate | ABIN1331708 anti-SLC29A1 antibody (AA 234-263) | Product No. ABIN2628368 anti-SLC29A1 抗体 (Internal Region) | ABIN4889832 Product No. anti-SLC29A1 antibody (Internal Region) | Product No. ABIN784015