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    SLC23A1 solute carrier family 23 member 1 [ Homo sapiens (human) ]

    Gene ID: 9963, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC23A1provided by HGNC
    Official Full Name
    solute carrier family 23 member 1provided by HGNC
    Primary source
    HGNC:HGNC:10974
    See related
    Ensembl:ENSG00000170482 MIM:603790; AllianceGenome:HGNC:10974
    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
    SVCT1; YSPL3; SLC23A2
    Summary
    The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
    Expression
    Biased expression in small intestine (RPKM 24.6), kidney (RPKM 21.3) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC23A1 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (139367196..139385676, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139893271..139911881, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138702885..138718986, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene matrin 3 Neighboring gene Sharpr-MPRA regulatory region 13556 Neighboring gene RNA, 5S ribosomal pseudogene 195 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966 Neighboring gene RN7SK pseudogene 64 Neighboring gene poly(A) binding protein interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138716531-138717471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138723739-138724286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138724287-138724834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138724835-138725382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16409 Neighboring gene Sharpr-MPRA regulatory region 996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16411 Neighboring gene spermatogenesis associated 24 Neighboring gene marginal zone B and B1 cell specific protein Neighboring gene proline rich basic protein 1

    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. Dimeric transport mechanism of human vitamin C transporter SVCT1. Kobayashi TA, et al. Nat Commun, 2024 Jul 2. PMID 38956111, Free PMC Article
    2. Genetic variation at the SLC23A1 locus is associated with circulating concentrations of L-ascorbic acid (vitamin C): evidence from 5 independent studies with >15,000 participants. Timpson NJ, et al. Am J Clin Nutr, 2010 Aug. PMID 20519558, Free PMC Article
    3. Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2). Erichsen HC, et al. J Nutr, 2001 Oct. PMID 11584081
    4. Polymorphisms in the sodium-dependent ascorbate transporter gene SLC23A1 are associated with susceptibility to Crohn disease. Amir Shaghaghi M, et al. Am J Clin Nutr, 2014 Feb. PMID 24284447
    5. SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis. de Jong TM, et al. J Clin Periodontol, 2014 Jun. PMID 24708273

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dimeric transport mechanism of human vitamin C transporter SVCT1.
      Title: Dimeric transport mechanism of human vitamin C transporter SVCT1.
    2. Vitamin C transporter SVCT1 serves a physiological role as a urate importer: functional analyses and in vivo investigations.
      Title: Vitamin C transporter SVCT1 serves a physiological role as a urate importer: functional analyses and in vivo investigations.
    3. Impact of SLC23A1 and SLC23A2 Polymorphisms on the Risk for Preeclampsia in a Chinese Han Population.
      Title: Impact of SLC23A1 and SLC23A2 Polymorphisms on the Risk for Preeclampsia in a Chinese Han Population.
    4. Effects of functional variants of vitamin C transporter genes on apolipoprotein E E4-associated risk of cognitive decline: The Nakajima study.
      Title: Effects of functional variants of vitamin C transporter genes on apolipoprotein E E4-associated risk of cognitive decline: The Nakajima study.
    5. Limited Association Between Ascorbate Concentrations and Vitamin C Transporters in Renal Cell Carcinoma Cells and Clinical Samples.
      Title: Limited Association Between Ascorbate Concentrations and Vitamin C Transporters in Renal Cell Carcinoma Cells and Clinical Samples.
    6. Posttranscriptional regulation of SVCT1 by miRNA in intestinal epithelial cells.Mir-103a target SVCT1 3'-UTR and regulates SVCT1 expression.
      Title: MicroRNA-103a regulates sodium-dependent vitamin C transporter-1 expression in intestinal epithelial cells.
    7. Our findings show, for the first time, that transporters of the water-soluble vitamin ascorbic acid (i.e., the vitamin C transporters SVCT-1 and SVCT-2) are differentially expressed along the length of the intestinal tract and that the pattern of expression is mediated, at least in part, by transcriptional and epigenetic mechanism(s) affecting both Slc23a1 and Slc23a2 genes.
      Title: Molecular mechanism(s) involved in differential expression of vitamin C transporters along the intestinal tract.
    8. consensus site for HNF1 that is crucial for the regulation of the human SVCT1 promoter is present in the SVCT1 rat promoter but has no effect on its transcriptional activity
      Title: Cis-regulatory elements involved in species-specific transcriptional regulation of the SVCT1 gene in rat and human hepatoma cells.
    9. SNP rs6596473 of SLC23A1 is suggested to be associated with AgP. results add to previous reports vitamin C plays a role in pathogenesis of periodontitis.
      Title: SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis.
    10. Data from observational/genetic association studies in Europe suggest an SNP in SLC23A1 (rs33972313) is associated with up-regulation of circulating L-ascorbic acid but not with any cardiometabolic/cardiovascular outcome investigated. [META-ANALYSIS]
      Title: Variation in the SLC23A1 gene does not influence cardiometabolic outcomes to the extent expected given its association with L-ascorbic acid.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    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

    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

    Homology

    Clone Names

    • MGC22361

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables L-ascorbate:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-ascorbate:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-ascorbic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-ascorbic acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-ascorbic acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables dehydroascorbic acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables nucleobase transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sodium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables urate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-ascorbic acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    NOT involved_in L-ascorbic acid transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-ascorbic acid transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dehydroascorbic acid transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleobase transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to toxic substance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in urate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intracellular organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 23 member 1
    Names
    Na(+)/L-ascorbic acid transporter 1
    hSVCT1
    sodium-dependent vitamin C transporter-1
    solute carrier family 23 (ascorbic acid transporter), member 1
    solute carrier family 23 (nucleobase transporters), member 1
    solute carrier family 23 (nucleobase transporters), member 2
    yolk sac permease-like molecule 3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_005847.5 → NP_005838.3  solute carrier family 23 member 1 isoform a

      See identical proteins and their annotated locations for NP_005838.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the more predominant transcript and encodes the shorter isoform (a).
      Source sequence(s)
      AI478520, AJ250807, BC050261, DA385445
      Consensus CDS
      CCDS4212.1
      UniProtKB/Swiss-Prot
      O95191, Q8WWB6, Q9UGH4, Q9UHI7, Q9UI39
      UniProtKB/TrEMBL
      A8K424
      Related
      ENSP00000302701.4, ENST00000348729.8
      Conserved Domains (2) summary
      pfam00860
      Location:45 → 476
      Xan_ur_permease; Permease family
      cl23746
      Location:28 → 482
      HCO3_cotransp; HCO3- transporter family

    2. NM_152685.4 → NP_689898.2  solute carrier family 23 member 1 isoform b

      See identical proteins and their annotated locations for NP_689898.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an in-frame alternative donor splice site at one of the internal coding exons compared to transcript variant 1. This results in an isoform (b) with 4 additional aa compared to isoform a.
      Source sequence(s)
      AI478520, BC050261, DA385445
      Consensus CDS
      CCDS4213.1
      UniProtKB/TrEMBL
      A8K424
      Related
      ENSP00000302851.5, ENST00000353963.7
      Conserved Domains (2) summary
      pfam00860
      Location:45 → 480
      Xan_ur_permease; Permease family
      cl23746
      Location:28 → 486
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      139367196..139385676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417957.1 → XP_047273913.1  solute carrier family 23 member 1 isoform X5

    2. XM_047417956.1 → XP_047273912.1  solute carrier family 23 member 1 isoform X4

    3. XM_006714741.3 → XP_006714804.3  solute carrier family 23 member 1 isoform X3

    4. XM_011543766.2 → XP_011542068.2  solute carrier family 23 member 1 isoform X6

    5. XM_011543767.2 → XP_011542069.2  solute carrier family 23 member 1 isoform X7

    6. XM_005272149.5 → XP_005272206.4  solute carrier family 23 member 1 isoform X2

    7. XM_005272148.4 → XP_005272205.4  solute carrier family 23 member 1 isoform X1

    8. XM_047417958.1 → XP_047273914.1  solute carrier family 23 member 1 isoform X8

    9. XM_011543765.3 → XP_011542067.2  solute carrier family 23 member 1 isoform X1

    10. XM_047417955.1 → XP_047273911.1  solute carrier family 23 member 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      139893271..139911881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353933.1 → XP_054209908.1  solute carrier family 23 member 1 isoform X10

    2. XM_054353930.1 → XP_054209905.1  solute carrier family 23 member 1 isoform X9

    3. XM_054353936.1 → XP_054209911.1  solute carrier family 23 member 1 isoform X13

    4. XM_054353938.1 → XP_054209913.1  solute carrier family 23 member 1 isoform X8

    5. XM_054353935.1 → XP_054209910.1  solute carrier family 23 member 1 isoform X12

    6. XM_054353937.1 → XP_054209912.1  solute carrier family 23 member 1 isoform X14

    7. XM_054353934.1 → XP_054209909.1  solute carrier family 23 member 1 isoform X11

    8. XM_054353939.1 → XP_054209914.1  solute carrier family 23 member 1 isoform X15

    9. XM_054353932.1 → XP_054209907.1  solute carrier family 23 member 1 isoform X9

    10. XM_054353931.1 → XP_054209906.1  solute carrier family 23 member 1 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHI7.4 GenPept UniProtKB/Swiss-Prot:Q9UHI7

    Gene LinkOut

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

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