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

Gene ID: 151295, updated on 27-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
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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
  • 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)

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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