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

Gene ID: 29015, updated on 20-Nov-2023

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
Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57406954..57427580, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57357133..57377747, complement)
105.20220307 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
  • 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. NUP160-SLC43A3 is a novel recurrent fusion oncogene in angiosarcoma. Shimozono N, et al. Cancer Res, 2015 Nov 1. PMID 26527604
  5. EEG1, a putative transporter expressed during epithelial organogenesis: comparison with embryonic transporter expression during nephrogenesis. Stuart RO, et al. Am J Physiol Renal Physiol, 2001 Dec. PMID 11704567

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Slc43a3 is a regulator of free fatty acid flux.
    Title: Slc43a3 is a regulator of free fatty acid flux.
  3. 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.
  4. 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.
  5. 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_2023_10

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

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