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    SLC23A3 solute carrier family 23 member 3 [ Homo sapiens (human) ]

    Gene ID: 151295, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC23A3provided by HGNC
    Official Full Name
    solute carrier family 23 member 3provided by HGNC
    Primary source
    HGNC:HGNC:20601
    See related
    Ensembl:ENSG00000213901 MIM:620339; AllianceGenome:HGNC:20601
    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
    E2BP3; SVCT3; Yspl1
    Summary
    Predicted to enable transmembrane transporter activity. Involved in hypoxanthine transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney (RPKM 21.8), small intestine (RPKM 10.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC23A3 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219161465..219170029, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219649889..219658452, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220026187..220034751, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906120 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:219941606-219942805 Neighboring gene non-homologous end joining factor 1 Neighboring gene RNA, 7SL, cytoplasmic 764, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17140 Neighboring gene Sharpr-MPRA regulatory region 9830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12343 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220042692-220043192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12346 Neighboring gene cyclin Pas1/PHO80 domain containing 1 Neighboring gene reticulophagy regulator family member 2

    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. SLC23A3 is a renal hypoxanthine transporter. Hosoyamada M, et al. Nucleosides Nucleotides Nucleic Acids, 2022. PMID 35094660
    2. [Expression of SLC30A10 and SLC23A3 Transporter mRNAs in Caco-2 Cells Correlates with an Increase in the Area of the Apical Membrane]. Nikulin SV, et al. Mol Biol (Mosk), 2018 Jul-Aug. PMID 30113032
    3. A new approach to the study of haematopoietic development in the yolk sac and embryoid bodies. Guimarães MJ, et al. Development, 1995 Oct. PMID 7588067
    4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Zhao J, et al. BMC Med Genet, 2010 Jun 14. PMID 20546612, Free PMC Article
    5. Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor. Pilot-Storck F, et al. Mol Cell Proteomics, 2010 Jul. PMID 20368287, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC23A3 is a renal hypoxanthine transporter.
      Title: SLC23A3 is a renal hypoxanthine transporter.
    2. In the course of differentiation, the most pronounced changes in the expression levels were observed for the mRNAs that encode SLC30A10 and SLC23A3 transporters. Their increase correlated with an increase in the apical membrane area, indicating that SLC30A10 and SLC23A3 mRNA levels assessed by qRT-PCR may be employed as cell differentiation biomarkers in Caco-2 models.
      Title: [Expression of SLC30A10 and SLC23A3 Transporter mRNAs in Caco-2 Cells Correlates with an Increase in the Area of the Apical Membrane].
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    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
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel 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: NHEJ1

    Homology

    Clone Names

    • FLJ31168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in hypoxanthine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 23 member 3
    Names
    E2-binding protein 3
    HPC E2-binding protein 3
    Na(+)/L-ascorbic acid transporter 3
    sodium-dependent vitamin C transporter 3
    solute carrier family 23 (nucleobase transporters), member 3

    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_001144889.2 → NP_001138361.1  solute carrier family 23 member 3 isoform 2

      See identical proteins and their annotated locations for NP_001138361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate in-frame splice sites and contains an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 2) is longer than isoform 1.
      Source sequence(s)
      AC068946, AK298256, DC361649
      Consensus CDS
      CCDS46518.1
      UniProtKB/Swiss-Prot
      B7Z512, Q2PYN6, Q6PIS1, Q96NA6
      UniProtKB/TrEMBL
      B7Z508
      Related
      ENSP00000386473.4, ENST00000409878.8
      Conserved Domains (2) summary
      pfam00860
      Location:77 → 473
      Xan_ur_permease; Permease family
      cl23746
      Location:43 → 513
      HCO3_cotransp; HCO3- transporter family

    2. NM_001144890.2 → NP_001138362.1  solute carrier family 23 member 3 isoform 3

      See identical proteins and their annotated locations for NP_001138362.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate in-frame splices sites in the 5' coding region and contains an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 3) is longer compared to isoform 1.
      Source sequence(s)
      AC068946, AK298277, DC361649
      Consensus CDS
      CCDS46517.1
      UniProtKB/TrEMBL
      B7Z508
      Related
      ENSP00000406546.2, ENST00000455516.6
      Conserved Domains (2) summary
      pfam00860
      Location:77 → 481
      Xan_ur_permease; Permease family
      cl23746
      Location:43 → 521
      HCO3_cotransp; HCO3- transporter family

    3. NM_144712.5 → NP_653313.3  solute carrier family 23 member 3 isoform 1

      See identical proteins and their annotated locations for NP_653313.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1).
      Source sequence(s)
      AC068946, BC030243, DC361649
      Consensus CDS
      CCDS42819.1
      UniProtKB/TrEMBL
      B7Z508
      Related
      ENSP00000295738.7, ENST00000295738.11
      Conserved Domains (2) summary
      pfam00860
      Location:77 → 356
      Xan_ur_permease; Permease family
      cl23746
      Location:270 → 390
      HCO3_cotransp; HCO3- transporter family

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219161465..219170029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219649889..219658452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PIS1.2 GenPept UniProtKB/Swiss-Prot:Q6PIS1

    Gene LinkOut

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

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