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

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; 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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dimeric transport mechanism of human vitamin C transporter SVCT1.
Title: Dimeric transport mechanism of human vitamin C transporter SVCT1.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 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

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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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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)

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
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