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

    Gene ID: 2030, updated on 28-Oct-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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 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

      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
      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

      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
      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

      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/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

      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/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

      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/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

      See identical proteins and their annotated locations for XP_005248935.1

      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

      See identical proteins and their annotated locations for XP_005248937.1

      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
    5. XM_005248882.5XP_005248939.1  equilibrative nucleoside transporter 1 isoform X2

      See identical proteins and their annotated locations for XP_005248939.1

      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

      See identical proteins and their annotated locations for XP_005248938.1

      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

    2. XM_054354448.1XP_054210423.1  equilibrative nucleoside transporter 1 isoform X2

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

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

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

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

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

    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.