SLC29A1 solute carrier family 29 member 1 (Augustine blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC29A1provided by HGNC
Official Full Name: solute carrier family 29 member 1 (Augustine blood group)provided by HGNC
Primary source: HGNC:HGNC:11003
See related: Ensembl:ENSG00000112759 MIM:602193
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ENT1
Summary: 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 nitrobenzylthioinosine (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. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 38.0), fat (RPKM 34.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (44219587..44234144)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (44187352..44201879)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

hENT1 reverses chemoresistance by regulating glycolysis in pancreatic cancer.
Title: hENT1 reverses chemoresistance by regulating glycolysis in pancreatic cancer.
Label-free detection of transporter activity via GPCR signalling in living cells: A case for SLC29A1, the equilibrative nucleoside transporter 1.
Title: Label-free detection of transporter activity via GPCR signalling in living cells: A case for SLC29A1, the equilibrative nucleoside transporter 1.
New Imidazo[2,1-b][1,3,4]Thiadiazole Derivatives Inhibit FAK Phosphorylation and Potentiate the Antiproliferative Effects of Gemcitabine Through Modulation of the Human Equilibrative Nucleoside Transporter-1 in Peritoneal Mesothelioma.
Title: New Imidazo[2,1-b][1,3,4]Thiadiazole Derivatives Inhibit FAK Phosphorylation and Potentiate the Antiproliferative Effects of Gemcitabine Through Modulation of the Human Equilibrative Nucleoside Transporter-1 in Peritoneal Mesothelioma.
This is the first report describing a defect in the family of CNT concentrative pyrimidine nucleoside transporter proteins encoded by the SLC28 gene family. In all likelihood, the epilepsy phenotype in the index is unrelated to the SLC28A1 defect, as this can be fully explained by the pathogenic PRRT2 variant.
Title: Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.
Hypoxia did not change expression of either hENT1, hENT2, or TK1.
Title: Effect of hypoxia on human equilibrative nucleoside transporters hENT1 and hENT2 in breast cancer.
Membrane hENT-1 is involved in intrahepatic cholangiocarcinoma cell proliferation and is associated with worse survival in resected iCC patients.
Title: Membrane human equilibrative nucleoside transporter 1 is associated with a high proliferation rate and worse survival in resected intrahepatic cholangiocarcinoma patients not receiving adjuvant treatments.
This study presents crystal structures of human ENT1 in complex with two chemically distinct adenosine reuptake inhibitors : dilazep and S-(4-nitrobenzyl)-6-thioinosine (NBMPR).
Title: Structures of human ENT1 in complex with adenosine reuptake inhibitors.
The genomic region between SLC29A1 and HSP90AB1 and its role in regulating adenosine signaling are key targets for further investigation into the pathogenesis of bevacizumab-induced hypertension.
Title: Identification of a Genomic Region between SLC29A1 and HSP90AB1 Associated with Risk of Bevacizumab-Induced Hypertension: CALGB 80405 (Alliance).
High ENT1 and DCK gene expression levels are a potential biomarker to predict favorable response to nelarabine therapy in T-cell acute lymphoblastic leukemia.
Title: High ENT1 and DCK gene expression levels are a potential biomarker to predict favorable response to nelarabine therapy in T-cell acute lymphoblastic leukemia.
We found no significant interaction between ENT1 genotype and clinical outcomes in ACS patients treated with ticagrelor or clopidogrel, apart from the association between a rare polymorphism and bleeding that requires further study.
Title: Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study.

Submit: New GeneRIF Correction See all GeneRIFs (135)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC29A1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67942 (e-PCR)
- UniSTS:4608

RH36576 (e-PCR)
- UniSTS:68457

SLC29A1_838 (e-PCR)
- UniSTS:277743

SLC29A1_V152 (e-PCR)
- UniSTS:277743

SHGC-146237 (e-PCR)
- UniSTS:175096

Homology

Homologs of the SLC29A1 gene: The SLC29A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 267 organisms have orthologs with human gene SLC29A1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
neurotransmitter transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
neurotransmitter transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
nucleoside transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
purine nucleoside transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
purine nucleoside transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
uridine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
adenosine transport	IDA Inferred from Direct Assay more info	PubMed
adenosine transport	ISS Inferred from Sequence or Structural Similarity more info
cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
lactation	IEA Inferred from Electronic Annotation more info
neurotransmitter reuptake	IMP Inferred from Mutant Phenotype more info	PubMed
neurotransmitter transport	IDA Inferred from Direct Assay more info	PubMed
neurotransmitter uptake	ISS Inferred from Sequence or Structural Similarity more info
nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
nucleoside transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
nucleoside transport	IDA Inferred from Direct Assay more info	PubMed
purine nucleoside transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
purine nucleoside transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
pyrimidine-containing compound transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
sleep	IEA Inferred from Electronic Annotation more info
transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
uridine transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
uridine transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
integral component of membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integral component of plasma membrane	IEA Inferred from Electronic Annotation more info
membrane	HDA more info	PubMed
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynapse	IEA Inferred from Electronic Annotation more info
presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: equilibrative nucleoside transporter 1

Names: equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter; nucleoside transporter, es-type; solute carrier family 29 (equilibrative nucleoside transporter), member 1; solute carrier family 29 (nucleoside transporters), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042893.1 RefSeqGene

Range

9091..19638

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1027

mRNA and Protein(s)

NM_001078175.3 → NP_001071643.1 equilibrative nucleoside transporter 1 isoform 1

See identical proteins and their annotated locations for NP_001071643.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 7 encode the same isoform (1).

Source sequence(s)

BC008954, CB996332

Consensus CDS

CCDS4908.1

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
NM_001078177.2 → NP_001071645.1 equilibrative nucleoside transporter 1 isoform 1

See identical proteins and their annotated locations for NP_001071645.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 7 encode the same isoform (1).

Source sequence(s)

AK090615, AL139392, BC001382, BM661584, DA559201

Consensus CDS

CCDS4908.1

UniProtKB/Swiss-Prot

Q99808

Related

ENSP00000360789.1, ENST00000371724.6

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
NM_001304462.2 → NP_001291391.1 equilibrative nucleoside transporter 1 isoform 5

See identical proteins and their annotated locations for NP_001291391.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and uses an upstream in-frame start codon, compared to variant 1. The encoded isoform (5) has a longer and distinct N-terminus compared to isoform 1.

Source sequence(s)

AK090491, DA680982

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:97 → 535

2a57; Equilibrative Nucleoside Transporter (ENT)
NM_001304465.2 → NP_001291394.1 equilibrative nucleoside transporter 1 isoform 3

See identical proteins and their annotated locations for NP_001291394.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an upstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a longer and distinct N-terminus compared to isoform 1.

Source sequence(s)

AF079117, BC001382, BM661584, DA680982

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:44 → 482

2a57; Equilibrative Nucleoside Transporter (ENT)
NM_001304466.2 → NP_001291395.1 equilibrative nucleoside transporter 1 isoform 4

See identical proteins and their annotated locations for NP_001291395.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and uses an upstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a longer and distinct N-terminus compared to isoform 1.

Source sequence(s)

BC001382, BM661584, DA680982, U81375

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:43 → 481

2a57; Equilibrative Nucleoside Transporter (ENT)
NM_001372327.1 → NP_001359256.1 equilibrative nucleoside transporter 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 7 encode the same isoform (1).

Source sequence(s)

AL139392

Related

ENSP00000360820.3, ENST00000371755.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p13 Primary Assembly

Range

44219587..44234144

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514341.2 → XP_011512643.1 equilibrative nucleoside transporter 1 isoform X1

Conserved Domains (1) summary

TIGR00939
Location:98 → 536

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_005248878.4 → XP_005248935.1 equilibrative nucleoside transporter 1 isoform X3

See identical proteins and their annotated locations for XP_005248935.1

UniProtKB/Swiss-Prot

Q99808

Related

ENSP00000377427.1, ENST00000393844.7

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_024446348.1 → XP_024302116.1 equilibrative nucleoside transporter 1 isoform X3

Related

ENSP00000498610.1, ENST00000651428.1

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_005248876.5 → XP_005248933.1 equilibrative nucleoside transporter 1 isoform X2

Conserved Domains (1) summary

TIGR00939
Location:61 → 499

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_005248880.4 → XP_005248937.1 equilibrative nucleoside transporter 1 isoform X3

See identical proteins and their annotated locations for XP_005248937.1

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_005248879.4 → XP_005248936.1 equilibrative nucleoside transporter 1 isoform X3

See identical proteins and their annotated locations for XP_005248936.1

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_005248881.4 → XP_005248938.1 equilibrative nucleoside transporter 1 isoform X3

See identical proteins and their annotated locations for XP_005248938.1

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_005248882.4 → XP_005248939.1 equilibrative nucleoside transporter 1 isoform X3

See identical proteins and their annotated locations for XP_005248939.1

UniProtKB/Swiss-Prot

Q99808

Conserved Domains (1) summary

TIGR00939
Location:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001078174.1: Suppressed sequence

Description

NM_001078174.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
NM_001078176.2: Suppressed sequence

Description

NM_001078176.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
NM_001304463.1: Suppressed sequence

Description

NM_001304463.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
NM_004955.2: Suppressed sequence

Description

NM_004955.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.