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

    Gene ID: 9963, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See SLC23A1 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (139367196..139384553, complement)
    105.20201022 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 RNA, 5S ribosomal pseudogene 195 Neighboring gene RN7SK pseudogene 64 Neighboring gene poly(A) binding protein interacting protein 2 Neighboring gene Sharpr-MPRA regulatory region 996 Neighboring gene marginal zone B and B1 cell specific protein Neighboring gene proline rich basic protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC22361

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in L-ascorbic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    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 transepithelial L-ascorbic acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    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 integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    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

    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)

    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_005847.5NP_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
      Q9UHI7
      Related
      ENSP00000302701.4, ENST00000348729.8
      Conserved Domains (2) summary
      pfam00860
      Location:45476
      Xan_ur_permease; Permease family
      cl23746
      Location:28482
      HCO3_cotransp; HCO3- transporter family
    2. NM_152685.4NP_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/Swiss-Prot
      Q9UHI7
      Related
      ENSP00000302851.5, ENST00000353963.7
      Conserved Domains (2) summary
      pfam00860
      Location:45480
      Xan_ur_permease; Permease family
      cl23746
      Location:28486
      HCO3_cotransp; HCO3- transporter family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      139367196..139384553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543769.1XP_011542071.1  solute carrier family 23 member 1 isoform X7

      Conserved Domains (1) summary
      cl23746
      Location:65249
      HCO3_cotransp; HCO3- transporter family
    2. XM_011543766.1XP_011542068.1  solute carrier family 23 member 1 isoform X4

      Conserved Domains (2) summary
      pfam00860
      Location:81443
      Xan_ur_permease; Permease family
      cl23746
      Location:64449
      HCO3_cotransp; HCO3- transporter family
    3. XM_011543767.1XP_011542069.1  solute carrier family 23 member 1 isoform X5

      Conserved Domains (2) summary
      pfam00860
      Location:81411
      Xan_ur_permease; Permease family
      cl23746
      Location:64417
      HCO3_cotransp; HCO3- transporter family
    4. XM_006714741.2XP_006714804.2  solute carrier family 23 member 1 isoform X3

      Conserved Domains (2) summary
      pfam00860
      Location:81516
      Xan_ur_permease; Permease family
      cl23746
      Location:64522
      HCO3_cotransp; HCO3- transporter family
    5. XM_005272148.3XP_005272205.3  solute carrier family 23 member 1 isoform X1

      See identical proteins and their annotated locations for XP_005272205.3

      Conserved Domains (2) summary
      pfam00860
      Location:81516
      Xan_ur_permease; Permease family
      cl23746
      Location:64522
      HCO3_cotransp; HCO3- transporter family
    6. XM_005272149.4XP_005272206.3  solute carrier family 23 member 1 isoform X2

      Conserved Domains (2) summary
      pfam00860
      Location:81512
      Xan_ur_permease; Permease family
      cl23746
      Location:64518
      HCO3_cotransp; HCO3- transporter family
    7. XM_011543768.1XP_011542070.1  solute carrier family 23 member 1 isoform X6

      Conserved Domains (1) summary
      cl23746
      Location:51364
      HCO3_cotransp; HCO3- transporter family
    8. XM_011543765.2XP_011542067.1  solute carrier family 23 member 1 isoform X1

      See identical proteins and their annotated locations for XP_011542067.1

      Conserved Domains (2) summary
      pfam00860
      Location:81516
      Xan_ur_permease; Permease family
      cl23746
      Location:64522
      HCO3_cotransp; HCO3- transporter family
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