Format

Send to:

Choose Destination

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

Gene ID: 2030, updated on 12-Oct-2019

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

Genomic context

See SLC29A1 in Genome Data Viewer
Location:
6p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (44219587..44234144)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44187242..44201888)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375072 Neighboring gene myomixer, myoblast fusion factor Neighboring gene RNA, 7SL, cytoplasmic 811, pseudogene 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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1465, MGC3778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleoside transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
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 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
nucleoside transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
nucleoside transport IDA
Inferred from Direct Assay
more info
PubMed 
sleep IEA
Inferred from Electronic Annotation
more info
 
uridine transport IBA
Inferred from Biological aspect of Ancestor
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 
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
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

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)

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)

mRNA and Protein(s)

  1. NM_001078175.3NP_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:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  2. NM_001078177.2NP_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:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  3. NM_001304462.2NP_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:97535
    2a57; Equilibrative Nucleoside Transporter (ENT)
  4. NM_001304465.2NP_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:44482
    2a57; Equilibrative Nucleoside Transporter (ENT)
  5. NM_001304466.2NP_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: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
    Related
    ENSP00000360820.3, ENST00000371755.8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    44219587..44234144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    TIGR00939
    Location:98536
    2a57; Equilibrative Nucleoside Transporter (ENT)
  2. XM_005248878.4XP_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, ENST00000393844.6
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  3. XM_024446348.1XP_024302116.1  equilibrative nucleoside transporter 1 isoform X3

    Related
    ENSP00000498610.1, ENST00000651428.1
    Conserved Domains (1) summary
    TIGR00939
    Location:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  4. XM_005248876.5XP_005248933.1  equilibrative nucleoside transporter 1 isoform X2

    Conserved Domains (1) summary
    TIGR00939
    Location:61499
    2a57; Equilibrative Nucleoside Transporter (ENT)
  5. XM_005248880.4XP_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:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  6. XM_005248879.4XP_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:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  7. XM_005248881.4XP_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:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)
  8. XM_005248882.4XP_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:18456
    2a57; Equilibrative Nucleoside Transporter (ENT)

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.
Support Center