UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SVCT1
HGNC Symbol:SLC23A1
HGNC Description:solute carrier family 23 (ascorbic acid transporter), member 1
HGNC ID:10974
Superfamily:SLC
Chromosome:Chr.5(-): 138702885-138720632 GRCh37
Location:5q31.2
OMIM:603790
OMIM Phenotype:None
Accessions:NM_005847
Nucleotide RefSeq:NM_005847
Protein RefSeq:NP_005838
Entrez:9963
Ensembl:ENSG00000170482
Isoforms:4
Evidence:Substrate In Vitro Evidence: Functional characterization of SVCT1 by multiple groups using X. laevis oocytes (Daruwala R, Song J, Koh WS, Rumsey SC, Levine M. Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. FEBS Lett 460:480-484, 1999; Wang Y, Mackenzie B, Tsukaguchi H, Weremowicz S, Morton CC, Hediger MA. Human vitamin C (l-ascorbic acid) transporter SVCT1. Biochem Biophys Res Commun 267:488-494, 2000) or HRPE cells (Wang H, Dutta B, Huang W, Devoe LD, Leibach FH, Ganapathy V, Prasad PD. Human Na+-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant. Biochim Biophys Acta 1461:1-9, 1999) shows strict preference for ascorbic acid (vitamin C) as a substrate vs. its isomers d-isoascorbic acid and dehydroascorbic acid and 2- or 6-substituted analogues. Glucose or nucleobases are not transported by SVCT1. Tissue Distribution Evidence: RT-PCR analysis showed hBT1 to be expressed ubiquitously, with high signals in brain, heart, kidney, liver, lung, pancreas, placenta, colon, ovaries, PBLs, prostate, small intestine, spleen, testis, and thymus (Hogue DL, Ling V. A human nucleobase transporter-like cDNA (SLC23A1): member of a transporter family conserved from bacteria to mammals. Genomics 59(1): 18-23, 1999). Northern blot analysis showed high expression of SVCT1 in kidney, liver, small intestine, thymus, and prostate (Wang H, Dutta B, Huang W, Devoe LD, Leibach FH, Ganapathy V, Prasad PD. Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant. Biochim Biophys Acta 1461(1): 1-9, 1999).
Tissues:Brain, heart, kidney, liver, lung, pancreas, placenta, colon, ovaries, PBLs, prostate, small intestine, spleen, testis, thymus
Type:protein-coding
Sets:V
PharmGKB ID:PA35850
HPRD ID:04810
Substrates:L-ascorbic acid
Trivial Names:SVCT1, YSPL3, SLC23A2
Transcripts:NM_005847.4 [Chr.5(-): 138702885-138719039 GRCh37]
NM_152685.3 [Chr.5(-): 138702885-138719039 GRCh37]
XM_005272149.1 [Chr.5(-): 138702885-138720632 GRCh37]
XM_005272148.1 [Chr.5(-): 138702885-138720632 GRCh37]
ENST00000348729 [Chr.5(-): 138702885-138718989 GRCh37]
ENST00000353963 [Chr.5(-): 138702885-138718981 GRCh37]
ENST00000502863 [Chr.5(-): 138716515-138718102 GRCh37]
ENST00000503919 [Chr.5(-): 138716287-138718990 GRCh37]
ENST00000504513 [Chr.5(-): 138714280-138716296 GRCh37]
ENST00000506512 [Chr.5(-): 138715020-138715902 GRCh37]
ENST00000508270 [Chr.5(-): 138717602-138720242 GRCh37]
Annotation History:View Events (20)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC23A1.

Variant Data

View all PMT variants for SLC23A1 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.