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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC23A1 Gene

protein-coding GIFtS: 60
GCID: GC05M138702

solute carrier family 23 (nucleobase transporters), member...

(Previous names: solute carrier family 23 (nucleobase transporters), member...)
(Previous symbol: SLC23A2)

Explore 17 diseases affiliated with
SLC23A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 23 (Nucleobase Transporters), Member 1¹ ²		Yolk Sac Permease-Like Molecule 3² ³
SVCT1¹ ² ³ ⁵		HSVCT1¹
YSPL3¹ ² ³		Na(+)/L-Ascorbic Acid Transporter 1² ³
SLC23A2¹ ²		Sodium-Dependent Vitamin C Transporter-1²
Solute Carrier Family 23 (Nucleobase Transporters), Member 2¹ ²		Solute Carrier Family 23 Member 1²
Sodium-Dependent Vitamin C Transporter 1² ³

External Ids:	HGNC: 10974¹	Entrez Gene: 9963²	Ensembl: ENSG00000170482⁷	OMIM: 603790⁵	UniProtKB: Q9UHI7³

Export aliases for SLC23A1 gene to outside databases

Previous GC identifers: GC20M004823 GC05M139377 GC05M138733 GC05M138779 GC05M138730 GC05M133892

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC23A1:

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)

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7

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

for each ascorbate

Gene Wiki entry for SLC23A1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC23A1 gene promoter:
NF-1/L HNF-4alpha2 AP-2gamma LCR-F1 HNF-4alpha1 GATA-2 c-Ets-1 MZF-1 HSF2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC23A1 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC23A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC23A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.2 Ensembl cytogenetic band: 5q31.2 HGNC cytogenetic band: 5q31.2

SLC23A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC23A1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M138702: view genomic region (about GC identifiers)

Start:	138,702,885 bp from pter	End:	138,720,242 bp from pter
Size:	17,358 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7 (See protein sequence)

Recommended Name: Solute carrier family 23 member 1

Size: 598 amino acids; 64831 Da

Subcellular location: Membrane; Multi-pass membrane protein

Miscellaneous: Treatment with the protein kinase C stimulator PMA results in a 10-fold decrease in ascorbate

accumulation in transfected cells

Secondary accessions: O95191 Q8WWB6 Q9UGH4 Q9UI39

Alternative splicing: 3 isoforms: Q9UHI7-1 Q9UHI7-2 Q9UHI7-3 (Inactive)

Explore the universe of human proteins at neXtProt for SLC23A1: NX_Q9UHI7

Post-translational modifications:

Phosphorylated (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UHI7

SLC23A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_005838.3 NP_689898.2

ENSEMBL proteins:

ENSP00000302851 ENSP00000302701 ENSP00000422688 ENSP00000427271

Reactome Protein details: Q9UHI7
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	Uscn Proteins for SLC23A1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	ISS	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	10395795
GO:0005903	brush border	IEA	--

SLC23A1 for ontologies About GeneDecksing

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	Uscn Antibodies for SLC23A1
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Assay Products for SLC23A1:

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	Uscn ELISAs and CLIAs for SLC23A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC23A1 for domains About GeneDecksing

1 InterPro domain/family:

IPR006043 Xant/urac/vitC

Graphical View of Domain Structure for InterPro Entry Q9UHI7

ProtoNet protein and cluster: Q9UHI7

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7

Similarity: Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7

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

for each ascorbate

Genatlas biochemistry entry for SLC23A1:

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SLC23A1 Browse MicroRNA Expression Plasmids
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		hsa-miR-516a-3p hsa-miR-516b* hsa-miR-3182
		SwitchGear 3'UTR luciferase reporter plasmid: SLC23A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC23A1 (see all 7) OriGene shRNA RFP: SLC23A1 OriGene siRNA: SLC23A1
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SLC23A1

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		Search LifeMap BioReagents cell lines for SLC23A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC23A1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	--	--
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

SLC23A1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Slc23a1^tm1Mlev for SLC23A1
     6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc23a1):

behavior/neurological	digestive/alimentary	homeostasis/metabolism	mortality/aging	other
renal/urinary system

SLC23A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Vitamin B5 (pantothenate) metabolism

Metabolism of vitamins and cofactors

0.21

Metabolism of water-soluble vitamins and cofactors

0.21

Vitamin C (ascorbate) metabolism

Vitamin C (ascorbate) metabolism

1.00

Vitamin digestion and absorption

Vitamin digestion and absorption

1.00

Metabolism

Metabolism

1.00

PAK Pathway

Antioxidant Action of Vitamin-C

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC23A1

Antioxidant Action of Vitamin-C

4 Reactome Pathways for SLC23A1

	Metabolism
	Metabolism of vitamins and cofactors
	Metabolism of water-soluble vitamins and cofactors
	Vitamin C (ascorbate) metabolism

1 Kegg Pathway (Kegg details for SLC23A1):

Vitamin digestion and absorption

SLC23A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC23A1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/7 Interacting proteins for SLC23A1 (Q9UHI7^{1, 3} ENSP00000302851⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCK1	P16333¹^,³, ENSP00000288986⁴	EBI-1759386,EBI-3448658 I2D: score=1 STRING: ENSP00000288986
PIK3R1	P27986³, ENSP00000274335⁴	I2D: score=1 STRING: ENSP00000274335
PLCG1	P19174³, ENSP00000244007⁴	I2D: score=1 STRING: ENSP00000244007
GRB2	P62993³, ENSP00000339007⁴	I2D: score=1 STRING: ENSP00000339007
GLIPR2	Q9H4G4³	I2D: score=5

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006139	nucleobase-containing compound metabolic process	TAS	9804989
GO:0006766	vitamin metabolic process	TAS	--
GO:0006767	water-soluble vitamin metabolic process	TAS	--
GO:0006814	sodium ion transport	IDA	18094143
GO:0007420	brain development	ISS	--

SLC23A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC23A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC23A1

2 HMDB Compounds for SLC23A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Ascorbic acid	(+)-ascorbate (see all 140)	50-81-7	--
Sodium	Sodium (see all 2)	7440-23-5	--

1 DrugBank Compound for SLC23A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Vitamin C	Ascorbate (see all 6)	50-81-7	target	--	17664139 17008880 17258485 17541511 17645691

3 Novoseek chemical compound relationships for SLC23A1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dehydroascorbic acid	83.5	4	16011461 (1), 15060139 (1)
ascorbic acid	81.3	90	17664139 (5), 11895172 (3), 17008880 (3), 18845575 (3) (see all 29)
glucose	8.8	1	15060139 (1)

Search CenterWatch for drugs/clinical trials and news about SLC23A1 / S23A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC23A1 gene (2 alternative transcripts):

NM_005847.4 NM_152685.3

Unigene Cluster for SLC23A1:

Solute carrier family 23 (nucleobase transporters), member 1

Hs.643467 [show with all ESTs]

Unigene Representative Sequence: NM_152685

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000353963(uc003leg.3) ENST00000348729(uc003leh.3) ENST00000504513

ENST00000506512 ENST00000503919 ENST00000502863 ENST00000508270

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SLC23A1 Browse OriGene MicroRNA Expression Plasmids
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		hsa-miR-516a-3p hsa-miR-516b* hsa-miR-3182
		SwitchGear 3'UTR luciferase reporter plasmid: SLC23A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AF058317.1 AF098277.1 AF170911.1 AJ250807.1 AJ269477.1 AK092655.1 AK290789.1 AK298337.1

AK300935.1 BC019225.1 BC050261.1

6 DOTS entries:

DT.432915 DT.120877529 DT.92420424 DT.120877481 DT.120877513 DT.92420425

24/35 AceView cDNA sequences (see all 35):

AW301577 AW510612 AI478520 AJ269477 BC050261 BE501825 AI628628 AI670840

AW016678 NM_005847 AK092655 BC019225 BE501932 NM_152685 BF589912 BI762985

AI766960 AJ250807 AI816779 AI628788 AF170911 BI765047 AI934925 BF104767

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A1 (see all 6) About this scheme

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:													-

ECgene alternative splicing isoforms for SLC23A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC23A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAAGAAAA

About this image

SLC23A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Proximal Tubule Cells

Kidney

Kidney

Kidney

Kidney

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SLC23A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC23A1

SOURCE GeneReport for Unigene cluster: Hs.643467

UniProtKB/Swiss-Prot: S23A1_HUMAN, Q9UHI7

Tissue specificity: Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in

fetal kidney, liver and thymus

SABiosciences Custom PCR Arrays for SLC23A1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC23A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC23A1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for SLC23A1 gene from 8/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc23a1^{1 , 5}	solute carrier family 23 (nucleobase transporters), more^{1, 5}	86.79(n)¹ 90.8(a)¹		18 (19.17 cM)⁵ 20522¹ NM_011397.4¹ NP_035527.3¹ 35614604⁵
chicken (Gallus gallus)	Aves	SLC23A1⁶	Uncharacterized protein	80(a)	1 ↔ 1	13(2188605-2189702)
lizard (Anolis carolinensis)	Reptilia	SLC23A1⁶	--	79(a)	1 ↔ 1	1(132035835-132058588)
zebrafish (Danio rerio)	Actinopterygii	slc23a1¹	solute carrier family 23 (nucleobase transporters), more	69.96(n) 76.86(a)		559435 NM_001173499.1 NP_001166970.1
honey bee (Apis mellifera)	Insecta	--	--	23(a)	possible ortholog	GroupUn.4723(1-651)
thale cress (Arabidopsis thaliana)	eudicotyledons	PDE135¹	nucleobase-ascorbate transporter 3	45.56(n) 35.11(a)		817192 NM_128208.4 NP_180219.1
rice (Oryza sativa)	Liliopsida	Os12g0583900¹	hypothetical protein	46.43(n) 34.87(a)		4352654 NM_001073681.1 NP_001067149.1
E. coli (Escherichia coli)	Gamma proteobacteria	ygfU⁶ xanP⁶ (see all 5)	xanthine permease (see all 5)	23(a) 22(a) (see all 5)	possible ortholog possible ortholog (see all 5)	Chromosome(3029389-3030837) Chromosome(3826968-3828359)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC23A1 gene

SLC23A2² SLC23A3²

3 SIMAP similar genes for SLC23A1 using alignment to 3 protein entries: S23A1_HUMAN (see all proteins):

SLC23A2 LOC392993 SLC23A3

SLC23A1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SLC23A1
PGOHUM00000263173

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72552248^1,2	C,F,	--	133892513(-)	`TTAAGA/GAAAAA`	2	--	ds500¹		7		MN WA	524
rs72552249^1,2	F,	--	133892652(-)	`AGACTA/GATGCA`	2	--	ut3¹		5		MN	404
rs73255268^1,2	C,	--	133892749(+)	`TTTTTT/ATCAAC`	2	--	ut3¹		2		WA	120
rs74704674^1,2	C,	--	133892808(+)	`ATGCTG/AACAAG`	2	--	ut3¹		2		CSA WA	120
rs66721307^1,2	C,F,	--	133892998(+)	`TTCAGG/ACTTAG`	2	--	ut3¹		8		MN WA EA	636
rs112134293^1,2	C,	--	133893287(+)	`GTTACC/ACTTAA`	2	--	int¹		1		NA	2
rs72552210^1,2	F,	--	133893292(-)	`TTTGCT/CTAAGT`	2	--	int¹		6		MN EA	528
rs10477811^1,2	A,	--	133893686(+)	`gaaccC/Tgggag`	2	--	int¹		0	--	--	--	--
rs11548837^1,2	C,H	--	133894515(+)	`AAATTG/TTCTTT`	2	--	int¹		2		NS NA	174
rs76278399^1,2		--	133894811(+)	`ATGTAA/CTTTGA`	2	--	int¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for SLC23A1 (138702885 - 138720242 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC23A1
1 CNV: 69207
Human Gene Mutation Database (HGMD): SLC23A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SLC23A1 for disorders           About GeneDecksing

OMIM gene information: 603790    OMIM disorders: --

17 diseases for SLC23A1:    About MalaCards

choroid plexus papilloma mature cataract cholestasis papilloma

cataract pulmonary disease cholera choroiditis

gastric cancer adenoma pneumonia esophagitis

neuroblastoma adenocarcinoma hepatitis prostatitis

neuronitis

Human Genome Epidemiology (HuGE) Navigator: SLC23A1 (16 documents)

Export disorders for SLC23A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC23A1 gene, integrated from 9 sources (see all 63):
(articles sorted by number of sources associating them with SLC23A1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transporters. (PubMed id 9804989)^{1, 2, 3} Faaland C.A....Holtzman E.J. (1998)
Sodium-dependent vitamin C transporter isoforms in skin: Distribution, kinetics, and effect of UVB-induced oxidative stress. (PubMed id 17664139)^{1, 7, 9} Steiling H....Williamson G. (2007)
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. (PubMed id 17008880)^{1, 7, 9} Kang J.S....Lee W.J. (2007)
Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non- functional splice variant. (PubMed id 10556483)^{1, 2, 9} Wang H....Prasad P.D. (1999)
Vitamin C transport and SVCT1 transporter expression in chick renal proximal tubule cells in culture. (PubMed id 17258485)^{1, 7, 9} Johnston L. and Laverty G. (2007)
Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. (PubMed id 10556521)^{1, 2, 9} Daruwala R.C.... Levine M. (1999)
Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2). (PubMed id 11584081)^{1, 2, 9} Erichsen H.C.... Chanock S. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Vitamin C transport systems of mammalian cells. (PubMed id 11396616)^{1, 2} Liang W.J.... Jarvis S.M. (2001)
Human vitamin C (L-ascorbic acid) transporter SVCT1. (PubMed id 10631088)^{1, 2} Wang Y....Hediger M.A. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9963	HGNC: 10974	AceView: SLC23A1	Ensembl:ENSG00000170482	euGenes: HUgn9963
ECgene: SLC23A1	Kegg: 9963	H-InvDB: SLC23A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC23A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC23A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC23A1 gene:
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GeneCards and IP:
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