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

Gene ID: 2030, updated on 9-Dec-2024

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; AllianceGenome:HGNC:11003
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
AUG; ENT1; hENT1
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
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Genomic context

See SLC29A1 in Genome Data Viewer
Location:
6p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44219615..44234142)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44053799..44068307)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44187352..44201879)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44168290-44169290 Neighboring gene myomixer, myoblast fusion factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44169291-44170290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44170291-44171291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44171292-44172291 Neighboring gene RNA, 7SL, cytoplasmic 811, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:44181066-44181247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44184149-44185034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44185035-44185920 Neighboring gene Sharpr-MPRA regulatory region 7869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44191161-44192019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44194558-44195156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44213140-44213894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44214649-44215403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24632 Neighboring gene heat shock protein 90 alpha family class B member 1 Neighboring gene solute carrier family 35 member B2 Neighboring gene microRNA 4647

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC1465, MGC3778

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adenine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adenosine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adenosine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in cytidine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in guanine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hypoxanthine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in inosine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lactation IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neurotransmitter uptake ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nucleobase transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in nucleoside transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nucleoside transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleoside transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in purine nucleobase transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in purine nucleoside transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in purine nucleoside transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pyrimidine nucleobase transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyrimidine-containing compound transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in thymine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in uracil transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in uridine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in uridine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in uridine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
involved_in xenobiotic transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
equilibrative nucleoside transporter 1
Names
equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter
es 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)

NEW Try the new Transcript table

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

  1. NG_042893.1 RefSeqGene

    Range
    9091..19638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1027

mRNA and Protein(s)

  1. NM_001078175.3NP_001071643.1  equilibrative nucleoside transporter 1 isoform 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
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  2. NM_001078177.2NP_001071645.1  equilibrative nucleoside transporter 1 isoform 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
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Related
    ENSP00000360789.1, ENST00000371724.6
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  3. NM_001304462.2NP_001291391.1  equilibrative nucleoside transporter 1 isoform 5

    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/TrEMBL
    A0A220K8H0
    Conserved Domains (1) summary
    TIGR00939
    Location:97535
    2a57; Equilibrative Nucleoside Transporter (ENT)
  4. NM_001304465.2NP_001291394.1  equilibrative nucleoside transporter 1 isoform 3

    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/TrEMBL
    A0A220K8H0
    Conserved Domains (1) summary
    TIGR00939
    Location:44482
    2a57; Equilibrative Nucleoside Transporter (ENT)
  5. NM_001304466.2NP_001291395.1  equilibrative nucleoside transporter 1 isoform 4

    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/TrEMBL
    A0A220K8H0
    Conserved Domains (1) summary
    TIGR00939
    Location:43481
    2a57; Equilibrative Nucleoside Transporter (ENT)
  6. NM_001372327.1NP_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
    Consensus CDS
    CCDS4908.1
    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Related
    ENSP00000360820.3, ENST00000371755.9

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    44219615..44234142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514341.3XP_011512643.1  equilibrative nucleoside transporter 1 isoform X1

    UniProtKB/TrEMBL
    A0A220K8H0
    Conserved Domains (1) summary
    TIGR00939
    Location:98536
    2a57; Equilibrative Nucleoside Transporter (ENT)
  2. XM_005248878.5XP_005248935.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Related
    ENSP00000498610.1, ENST00000651428.1
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  3. XM_005248880.5XP_005248937.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  4. XM_005248876.6XP_005248933.2  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
  5. XM_005248882.5XP_005248939.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Related
    ENSP00000360773.1, ENST00000371708.1
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  6. XM_005248881.5XP_005248938.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
    Related
    ENSP00000499107.1, ENST00000652453.1
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    44053799..44068307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354443.1XP_054210418.1  equilibrative nucleoside transporter 1 isoform X1

    UniProtKB/TrEMBL
    A0A220K8H0
  2. XM_054354448.1XP_054210423.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
  3. XM_054354445.1XP_054210420.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
  4. XM_054354444.1XP_054210419.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
  5. XM_054354447.1XP_054210422.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0
  6. XM_054354446.1XP_054210421.1  equilibrative nucleoside transporter 1 isoform X2

    UniProtKB/Swiss-Prot
    B3KQV7, B3KQY5, Q5T9W9, Q99808, Q9UJY2
    UniProtKB/TrEMBL
    A0A220K8H0

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
  2. 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.
  3. 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.
  4. 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.