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    SLC43A3 solute carrier family 43 member 3 [ Homo sapiens (human) ]

    Gene ID: 29015, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC43A3provided by HGNC
    Official Full Name
    solute carrier family 43 member 3provided by HGNC
    Primary source
    HGNC:HGNC:17466
    See related
    Ensembl:ENSG00000134802 MIM:618034; AllianceGenome:HGNC:17466
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EEG1; ENBT1; FOAP-13; PRO1659; SEEEG-1
    Summary
    Enables adenine transmembrane transporter activity; guanine transmembrane transporter activity; and xenobiotic transmembrane transporter activity. Involved in hypoxanthine transport. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 33.1), liver (RPKM 25.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC43A3 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57406954..57427580, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57357133..57377747, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57174427..57195053, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57146812-57148011 Neighboring gene proteoglycan 3, pro eosinophil major basic protein 2 Neighboring gene proteoglycan 2, pro eosinophil major basic protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57182050-57182550 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:57193011-57194210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3346 Neighboring gene RNA, 5S ribosomal pseudogene 341 Neighboring gene RN7SK pseudogene 259

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Impact of SLC43A3/ENBT1 Expression and Function on 6-Mercaptopurine Transport and Cytotoxicity in Human Acute Lymphoblastic Leukemia Cells. Ruel NM, et al. J Pharmacol Exp Ther, 2022 Sep. PMID 35798387
    2. Functional Analysis of the Role of Equilibrative Nucleobase Transporter 1 (ENBT1/SLC43A3) in Adenine Transport in HepG2 Cells. Takenaka R, et al. J Pharm Sci, 2020 Aug. PMID 32339528
    3. Characterization of 6-Mercaptopurine Transport by the SLC43A3-Encoded Nucleobase Transporter. Ruel NM, et al. Mol Pharmacol, 2019 Jun. PMID 30910793
    4. Functional comparison of human and murine equilibrative nucleobase transporter 1. Kim CS, et al. PLoS One, 2024. PMID 39361655, Free PMC Article
    5. Human eosinophil major basic protein, a mediator of allergic inflammation, is expressed by alternative splicing from two promoters. Li MS, et al. Biochem J, 1995 Feb 1. PMID 7531438, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional comparison of human and murine equilibrative nucleobase transporter 1.
      Title: Functional comparison of human and murine equilibrative nucleobase transporter 1.
    2. Impact of SLC43A3/ENBT1 Expression and Function on 6-Mercaptopurine Transport and Cytotoxicity in Human Acute Lymphoblastic Leukemia Cells.
      Title: Impact of SLC43A3/ENBT1 Expression and Function on 6-Mercaptopurine Transport and Cytotoxicity in Human Acute Lymphoblastic Leukemia Cells.
    3. Slc43a3 is a regulator of free fatty acid flux.
      Title: Slc43a3 is a regulator of free fatty acid flux.
    4. Functional Analysis of the Role of Equilibrative Nucleobase Transporter 1 (ENBT1/SLC43A3) in Adenine Transport in HepG2 Cells.
      Title: Functional Analysis of the Role of Equilibrative Nucleobase Transporter 1 (ENBT1/SLC43A3) in Adenine Transport in HepG2 Cells.
    5. SLC43A3 is an equilibrative nucleobase transporter involved in purine salvage in mammals.
      Title: Functional identification of SLC43A3 as an equilibrative nucleobase transporter involved in purine salvage in mammals.
    6. transcriptome sequencing of patient-derived angiosarcoma cells, identified a novel fusion gene NUP160-SLC43A3 found to be expressed in 9 of 25 human angiosarcoma specimens that were examined.
      Title: NUP160-SLC43A3 is a novel recurrent fusion oncogene in angiosarcoma.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: PRG2

    Homology

    Clone Names

    • DKFZp762A227

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fatty acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables guanine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables xenobiotic transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenine transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in guanine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hypoxanthine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    equilibrative nucleobase transporter 1
    Names
    likely ortholog of mouse embryonic epithelial gene 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.

    mRNA and Protein(s)

    1. NM_001278201.2 → NP_001265130.1  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_001265130.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
      Source sequence(s)
      AK315839, AL157431
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8

    2. NM_001278206.2 → NP_001265135.1  equilibrative nucleobase transporter 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) has an additional segment, compared to isoform 1.
      Source sequence(s)
      AK298028, AL157431
      Consensus CDS
      CCDS60784.1
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000434515.1, ENST00000533524.5

    3. NM_014096.4 → NP_054815.2  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_054815.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variants 2, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AL157431, AP000781, HY120731
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000378555.2, ENST00000395123.6

    4. NM_017611.3 → NP_060081.1  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_060081.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
      Source sequence(s)
      AB028927, AL157431
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000337561.1, ENST00000352187.5

    5. NM_199329.3 → NP_955361.1  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_955361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
      Source sequence(s)
      AL157431, BC003163, DC347054
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000378556.1, ENST00000395124.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57406954..57427580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57357133..57377747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBI5.2 GenPept UniProtKB/Swiss-Prot:Q8NBI5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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