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Aliases for SLC23A1 Gene

Aliases for SLC23A1 Gene

  • Solute Carrier Family 23 Member 1 2 3 5
  • Solute Carrier Family 23 (Ascorbic Acid Transporter), Member 1 2 3
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 2 2 3
  • Na(+)/L-Ascorbic Acid Transporter 1 3 4
  • Yolk Sac Permease-Like Molecule 3 3 4
  • HSVCT1 3 4
  • SVCT1 3 4
  • YSPL3 3 4
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 1 3
  • Sodium-Dependent Vitamin C Transporter-1 3
  • Sodium-Dependent Vitamin C Transporter 1 4
  • SLC23A2 3

External Ids for SLC23A1 Gene

Previous HGNC Symbols for SLC23A1 Gene

  • SLC23A2

Previous GeneCards Identifiers for SLC23A1 Gene

  • GC20M004823
  • GC05M138733
  • GC05M138779
  • GC05M138730
  • GC05M133892
  • GC05M138702

Summaries for SLC23A1 Gene

Entrez Gene Summary for SLC23A1 Gene

  • 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]

GeneCards Summary for SLC23A1 Gene

SLC23A1 (Solute Carrier Family 23 Member 1) is a Protein Coding gene. Diseases associated with SLC23A1 include Hypoascorbemia. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include transporter activity and dehydroascorbic acid transmembrane transporter activity. An important paralog of this gene is SLC23A2.

UniProtKB/Swiss-Prot for SLC23A1 Gene

  • Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate.

Gene Wiki entry for SLC23A1 Gene

Additional gene information for SLC23A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC23A1 Gene

Genomics for SLC23A1 Gene

GeneHancer (GH) Regulatory Elements for SLC23A1 Gene

Promoters and enhancers for SLC23A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I139381 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 577.5 -5.2 -5165 15.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC23A1 PROB1 MZB1 DNAJC18 PURA PAIP2 SIL1 MATR3 GC05P139382 SPATA24
GH05I139270 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 13.5 +109.5 109506 8.2 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 MATR3 ENSG00000280987 SNORA74D SNHG4 KDM3B RPL7P19 SLC23A1 DNAJC18 ETF1 LOC105379194
GH05I139341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.3 +42.2 42238 2.6 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZNF610 PAIP2 KDM3B PURA RPL7P19 SLC23A1 MZB1 PROB1 MATR3 SNORA74A SIL1
GH05I139517 Enhancer 1.7 FANTOM5 Ensembl ENCODE 10.9 -133.6 -133622 1.9 ZFP64 FEZF1 DMAP1 ZNF213 ZNF416 ZNF143 ZNF263 SP3 ZC3H11A MEF2D PURA ANKHD1 MALINC1 IGIP MATR3 DNAJC18 SLC23A1 CTNNA1 PSD2 UBE2D2
GH05I139261 Enhancer 1.1 Ensembl ENCODE 13.5 +121.7 121657 1.9 ARID4B SIN3A ZNF2 ETS1 ZNF766 ZNF213 ZNF207 ZNF143 ATF7 RUNX3 SLC23A1 ENSG00000280987 MATR3 SNHG4 SIL1 RNU6-572P GC05P138946
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC23A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC23A1 gene promoter:

Genomic Locations for SLC23A1 Gene

Genomic Locations for SLC23A1 Gene
chr5:139,367,196-139,384,553
(GRCh38/hg38)
Size:
17,358 bases
Orientation:
Minus strand
chr5:138,702,885-138,720,242
(GRCh37/hg19)

Genomic View for SLC23A1 Gene

Genes around SLC23A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC23A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC23A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC23A1 Gene

Proteins for SLC23A1 Gene

  • Protein details for SLC23A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHI7-S23A1_HUMAN
    Recommended name:
    Solute carrier family 23 member 1
    Protein Accession:
    Q9UHI7
    Secondary Accessions:
    • O95191
    • Q8WWB6
    • Q9UGH4
    • Q9UI39

    Protein attributes for SLC23A1 Gene

    Size:
    598 amino acids
    Molecular mass:
    64831 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Treatment with the protein kinase C stimulator PMA results in a 10-fold decrease in ascorbate accumulation in transfected cells.

    Alternative splice isoforms for SLC23A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC23A1 Gene

Post-translational modifications for SLC23A1 Gene

No data available for DME Specific Peptides for SLC23A1 Gene

Domains & Families for SLC23A1 Gene

Gene Families for SLC23A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC23A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC23A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHI7

UniProtKB/Swiss-Prot:

S23A1_HUMAN :
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
Family:
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
genes like me logo Genes that share domains with SLC23A1: view

Function for SLC23A1 Gene

Molecular function for SLC23A1 Gene

GENATLAS Biochemistry:
solute carrier family 23,member 1 (nucleobase transport),expressed in a host of metabolically active cells and specialized tissues in the brain,eye and other organs
UniProtKB/Swiss-Prot Function:
Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate.

Gene Ontology (GO) - Molecular Function for SLC23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
GO:0008520 L-ascorbate:sodium symporter activity IDA 18094143
GO:0015081 sodium ion transmembrane transporter activity IDA 18094143
GO:0015205 nucleobase transmembrane transporter activity TAS 10395795
GO:0015229 L-ascorbic acid transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC23A1: view
genes like me logo Genes that share phenotypes with SLC23A1: view

Animal Models for SLC23A1 Gene

MGI Knock Outs for SLC23A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC23A1 Gene

Localization for SLC23A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC23A1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC23A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for SLC23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10395795
GO:0009925 basal plasma membrane IEA --
GO:0016020 membrane IEA,TAS 9804989
genes like me logo Genes that share ontologies with SLC23A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC23A1 Gene

Pathways & Interactions for SLC23A1 Gene

genes like me logo Genes that share pathways with SLC23A1: view

Pathways by source for SLC23A1 Gene

Gene Ontology (GO) - Biological Process for SLC23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 9804989
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA,IDA 18094143
GO:0007420 brain development ISS --
genes like me logo Genes that share ontologies with SLC23A1: view

No data available for SIGNOR curated interactions for SLC23A1 Gene

Drugs & Compounds for SLC23A1 Gene

(5) Drugs for SLC23A1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target, Transporter 581,581
[<sup>14</sup>C]ascorbic acid Pharma 0
Phloretin Pharma Inhibitor A dihydrochalcone found in apple 0

(1) Additional Compounds for SLC23A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC23A1: view

Transcripts for SLC23A1 Gene

Unigene Clusters for SLC23A1 Gene

Solute carrier family 23 (nucleobase transporters), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - -
SP2: - -
SP3: -
SP4: - - - -
SP5: -
SP6:

Relevant External Links for SLC23A1 Gene

GeneLoc Exon Structure for
SLC23A1
ECgene alternative splicing isoforms for
SLC23A1

Expression for SLC23A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC23A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC23A1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x13.9), Liver (x11.9), and Kidney - Cortex (x9.1).

Protein differential expression in normal tissues from HIPED for SLC23A1 Gene

This gene is overexpressed in Urine (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC23A1 Gene



Protein tissue co-expression partners for SLC23A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC23A1 Gene:

SLC23A1

SOURCE GeneReport for Unigene cluster for SLC23A1 Gene:

Hs.643467

mRNA Expression by UniProt/SwissProt for SLC23A1 Gene:

Q9UHI7-S23A1_HUMAN
Tissue specificity: Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in fetal kidney, liver and thymus.

Evidence on tissue expression from TISSUES for SLC23A1 Gene

  • Kidney(4.8)
  • Intestine(4.4)
  • Liver(2.5)
genes like me logo Genes that share expression patterns with SLC23A1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC23A1 Gene

Orthologs for SLC23A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC23A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC23A1 33 34
  • 99.39 (n)
cow
(Bos Taurus)
Mammalia SLC23A1 33 34
  • 89.77 (n)
dog
(Canis familiaris)
Mammalia SLC23A1 33 34
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Slc23a1 33
  • 87.16 (n)
mouse
(Mus musculus)
Mammalia Slc23a1 33 16 34
  • 86.73 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC23A1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC23A1 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC23A1 33 34
  • 77.01 (n)
lizard
(Anolis carolinensis)
Reptilia SLC23A1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493636 33
  • 65.53 (n)
zebrafish
(Danio rerio)
Actinopterygii slc23a1 33 34
  • 69.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6293 35 34
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea C51E3.6 35
  • 35 (a)
R11E3.2 35
  • 33 (a)
T07G12.4 35
  • 33 (a)
Y59E9AL.4 35
  • 33 (a)
T07G12.2 35
  • 32 (a)
T07G12.5 35
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons NAT8 33
  • 43.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToMany
Species where no ortholog for SLC23A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC23A1 Gene

ENSEMBL:
Gene Tree for SLC23A1 (if available)
TreeFam:
Gene Tree for SLC23A1 (if available)

Paralogs for SLC23A1 Gene

Paralogs for SLC23A1 Gene

(3) SIMAP similar genes for SLC23A1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SLC23A1 Gene

genes like me logo Genes that share paralogs with SLC23A1: view

Variants for SLC23A1 Gene

Sequence variations from dbSNP and Humsavar for SLC23A1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000142384 -- 139,375,987(-) A/C intron_variant
rs1000685694 -- 139,370,543(-) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1001092691 -- 139,382,109(-) G/A intron_variant
rs1001285683 -- 139,369,985(-) A/G genic_downstream_transcript_variant, intron_variant
rs1001472147 -- 139,375,478(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC23A1 Gene

Variant ID Type Subtype PubMed ID
esv28262 CNV gain 19812545
nsv950410 CNV deletion 24416366

Variation tolerance for SLC23A1 Gene

Residual Variation Intolerance Score: 51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC23A1 Gene

Human Gene Mutation Database (HGMD)
SLC23A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC23A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC23A1 Gene

Disorders for SLC23A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC23A1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypoascorbemia
  • scurvy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC23A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC23A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC23A1 Gene

Publications for SLC23A1 Gene

  1. Genetic variation in sodium-dependent ascorbic acid transporters and risk of gastric cancer in Poland. (PMID: 19243932) Wright ME … Hou L (European journal of cancer (Oxford, England : 1990) 2009) 3 22 44 58
  2. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PMID: 18636124) Skibola CF … Smith MT (PloS one 2008) 3 22 44 58
  3. Genetic variation in sodium-dependent vitamin C transporters SLC23A1 and SLC23A2 and risk of advanced colorectal adenoma. (PMID: 18791929) Erichsen HC … Chanock S (Nutrition and cancer 2008) 3 22 44 58
  4. Regulation of UVB-induced IL-8 and MCP-1 production in skin keratinocytes by increasing vitamin C uptake via the redistribution of SVCT-1 from the cytosol to the membrane. (PMID: 17008880) Kang JS … Lee WJ (The Journal of investigative dermatology 2007) 3 22 25 58
  5. Vitamin C transport and SVCT1 transporter expression in chick renal proximal tubule cells in culture. (PMID: 17258485) Johnston L … Laverty G (Comparative biochemistry and physiology. Part A, Molecular & integrative physiology 2007) 3 22 25 58

Products for SLC23A1 Gene

Sources for SLC23A1 Gene

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