SLC23A1 (solute carrier family 23 member 1)

Gene

• Entrez ID: 9963
• Gene name: Solute carrier family 23 member 1
• Gene symbol: SLC23A1
• Synonyms (NCBI Gene): SLC23A2, SVCT1, YSPL3
• Chromosome: 5
• Chromosome location: 5q31.2
• 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 su

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT569658	hsa-miR-3662	PAR-CLIP	20371350
MIRT569657	hsa-miR-224-3p	PAR-CLIP	20371350
MIRT569656	hsa-miR-522-3p	PAR-CLIP	20371350
MIRT569655	hsa-miR-5009-3p	PAR-CLIP	20371350
MIRT569653	hsa-miR-3650	PAR-CLIP	20371350
MIRT569654	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569652	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT534243	hsa-miR-4781-5p	PAR-CLIP	22012620
MIRT534242	hsa-miR-5193	PAR-CLIP	22012620
MIRT534241	hsa-miR-660-3p	PAR-CLIP	22012620
MIRT534240	hsa-miR-3653-5p	PAR-CLIP	22012620
MIRT534239	hsa-miR-4321	PAR-CLIP	22012620
MIRT497593	hsa-miR-1179	PAR-CLIP	22291592
MIRT497592	hsa-miR-877-3p	PAR-CLIP	22291592
MIRT497591	hsa-miR-1185-5p	PAR-CLIP	22291592
MIRT497590	hsa-miR-3679-5p	PAR-CLIP	22291592
MIRT497589	hsa-miR-3605-5p	PAR-CLIP	22291592
MIRT497588	hsa-miR-6881-3p	PAR-CLIP	22291592
MIRT497587	hsa-miR-526b-5p	PAR-CLIP	22291592
MIRT497586	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT497585	hsa-miR-3915	PAR-CLIP	22291592
MIRT497584	hsa-miR-1224-5p	PAR-CLIP	22291592
MIRT497583	hsa-miR-4689	PAR-CLIP	22291592
MIRT497582	hsa-miR-6858-5p	PAR-CLIP	22291592
MIRT497581	hsa-miR-510-3p	PAR-CLIP	22291592
MIRT467873	hsa-miR-562	PAR-CLIP	23592263
MIRT467872	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT467872	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT467871	hsa-miR-6791-3p	PAR-CLIP	23592263
MIRT467869	hsa-miR-6829-3p	PAR-CLIP	23592263
MIRT467870	hsa-miR-3649	PAR-CLIP	23592263
MIRT569658	hsa-miR-3662	PAR-CLIP	20371350
MIRT569657	hsa-miR-224-3p	PAR-CLIP	20371350
MIRT569656	hsa-miR-522-3p	PAR-CLIP	20371350
MIRT569655	hsa-miR-5009-3p	PAR-CLIP	20371350
MIRT569653	hsa-miR-3650	PAR-CLIP	20371350
MIRT569654	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569652	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT534243	hsa-miR-4781-5p	PAR-CLIP	22012620
MIRT534242	hsa-miR-5193	PAR-CLIP	22012620
MIRT534241	hsa-miR-660-3p	PAR-CLIP	22012620
MIRT534240	hsa-miR-3653-5p	PAR-CLIP	22012620
MIRT534239	hsa-miR-4321	PAR-CLIP	22012620
MIRT497593	hsa-miR-1179	PAR-CLIP	22291592
MIRT497592	hsa-miR-877-3p	PAR-CLIP	22291592
MIRT497591	hsa-miR-1185-5p	PAR-CLIP	22291592
MIRT497590	hsa-miR-3679-5p	PAR-CLIP	22291592
MIRT497589	hsa-miR-3605-5p	PAR-CLIP	22291592
MIRT497588	hsa-miR-6881-3p	PAR-CLIP	22291592
MIRT497587	hsa-miR-526b-5p	PAR-CLIP	22291592
MIRT497586	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT497585	hsa-miR-3915	PAR-CLIP	22291592
MIRT497584	hsa-miR-1224-5p	PAR-CLIP	22291592
MIRT497583	hsa-miR-4689	PAR-CLIP	22291592
MIRT497582	hsa-miR-6858-5p	PAR-CLIP	22291592
MIRT497581	hsa-miR-510-3p	PAR-CLIP	22291592
MIRT467873	hsa-miR-562	PAR-CLIP	23592263
MIRT467872	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT467872	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT467871	hsa-miR-6791-3p	PAR-CLIP	23592263
MIRT467869	hsa-miR-6829-3p	PAR-CLIP	23592263
MIRT467870	hsa-miR-3649	PAR-CLIP	23592263
MIRT1354608	hsa-miR-1207-5p	CLIP-seq
MIRT1354609	hsa-miR-1305	CLIP-seq
MIRT1354610	hsa-miR-1343	CLIP-seq
MIRT1354611	hsa-miR-2115	CLIP-seq
MIRT1354612	hsa-miR-3074-5p	CLIP-seq
MIRT1354613	hsa-miR-3124-3p	CLIP-seq
MIRT1354614	hsa-miR-3155	CLIP-seq
MIRT1354615	hsa-miR-3155b	CLIP-seq
MIRT1354616	hsa-miR-3167	CLIP-seq
MIRT1354617	hsa-miR-3690	CLIP-seq
MIRT1354618	hsa-miR-4254	CLIP-seq
MIRT1354619	hsa-miR-4278	CLIP-seq
MIRT1354620	hsa-miR-4290	CLIP-seq
MIRT1354621	hsa-miR-4446-3p	CLIP-seq
MIRT1354622	hsa-miR-4474-5p	CLIP-seq
MIRT1354623	hsa-miR-4492	CLIP-seq
MIRT1354624	hsa-miR-4498	CLIP-seq
MIRT1354625	hsa-miR-4505	CLIP-seq
MIRT1354626	hsa-miR-4688	CLIP-seq
MIRT1354627	hsa-miR-4763-3p	CLIP-seq
MIRT1354628	hsa-miR-484	CLIP-seq
MIRT1354629	hsa-miR-486-3p	CLIP-seq
MIRT1354630	hsa-miR-491-3p	CLIP-seq
MIRT1354631	hsa-miR-516a-3p	CLIP-seq
MIRT1354632	hsa-miR-586	CLIP-seq
MIRT1354633	hsa-miR-656	CLIP-seq
MIRT1354634	hsa-miR-762	CLIP-seq
MIRT1354635	hsa-miR-876-5p	CLIP-seq
MIRT1354636	hsa-miR-889	CLIP-seq
MIRT1354612	hsa-miR-3074-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17474147, 23599041, 25416956, 29892012, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IDA	10631088, 36749388
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10395795
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	18094143
GO:0006814	Process	Sodium ion transport	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008520	Function	L-ascorbate:sodium symporter activity	IDA	10556483
GO:0008520	Function	L-ascorbate:sodium symporter activity	IDA	10556483, 10631088, 11895172, 15993839, 18094143, 36749388
GO:0008520	Function	L-ascorbate:sodium symporter activity	IEA
GO:0009636	Process	Response to toxic substance	IDA	17575980
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015081	Function	Sodium ion transmembrane transporter activity	IDA	18094143
GO:0015143	Function	Urate transmembrane transporter activity	IDA	36749388
GO:0015143	Function	Urate transmembrane transporter activity	IEA
GO:0015205	Function	Nucleobase transmembrane transporter activity	TAS	10395795
GO:0015229	Function	L-ascorbic acid transmembrane transporter activity	IBA
GO:0015229	Function	L-ascorbic acid transmembrane transporter activity	IDA	10631088, 11895172, 18247577, 18417304, 19216494
GO:0015229	Function	L-ascorbic acid transmembrane transporter activity	IEA
GO:0015229	Function	L-ascorbic acid transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015747	Process	Urate transport	IEA
GO:0015851	Process	Nucleobase transport	TAS	10395795
GO:0015882	Process	L-ascorbic acid transmembrane transport	IDA	10556483
GO:0015882	Process	L-ascorbic acid transmembrane transport	IDA	10556483, 10631088, 11895172, 18247577, 18417304, 19216494
GO:0015882	Process	L-ascorbic acid transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	15993839, 18094143, 18247577, 18417304, 19216494
GO:0019852	Process	L-ascorbic acid metabolic process	TAS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030324	Process	Lung development	IEA
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IMP	18247577
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0043229	Component	Intracellular organelle	IDA	15993839
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070837	Process	Dehydroascorbic acid transport	IMP	18247577

Other IDs

• MIM: 603790
• HGNC: 10974
• e!Ensembl: ENSG00000170482

Protein

• UniProt ID: Q9UHI7
• Protein name: Solute carrier family 23 member 1 (Na(+)/L-ascorbic acid transporter 1) (Sodium-dependent vitamin C transporter 1) (hSVCT1) (Yolk sac permease-like molecule 3)
• Protein function: Sodium:ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate (PubMed:10556483, PubMed:10556521, PubMed:10631088, PubMed:36749388). Has retained some ancestral activity toward nucle
• PDB: 8JEW, 8JEZ, 8JF0, 8JF1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00860	Xan_ur_permease	43 → 477	Permease family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in fetal kidney, liver and thymus. {ECO:0000269|PubMed:10556483}.
• Sequence:

  MRAQEDLEGRTQHETTRDPSTPLPTEPKFDMLYKIEDVPPWYLCILLGFQHYLTCFSGTI
  AVPFLLAEALCVGHDQHMVSQLIGTIFTCVGITTLIQTTVGIRLPLFQASAFAFLVPAKA
  ILALERWKCPPEEEIYGNWSLPLNTSHIWHPRIREVQGAIMVSSVVEVVIGLLGLPGALL
  NYIGPLTVTPTVSLIGLSVFQAAGDRAGSHWGISACSILLIILFSQYLRNLTFLLPVYRW
  GKGLTLLRIQIFKMFPIMLAIMTVWLLCYVLTLTDVLPTDPKAYGFQARTDARGDIMAIA
  PWIRIPYPCQWGLPTVTAAAVLGMFSATLAGIIESIGDYYACARLAGAPPPPVHAINRGI
  FTEGICCIIAGLLGTGNGSTSSSPNIGVLGITKVGSRRVVQYGAAIMLVLGTIGKFTALF
  SSLPDPILGGMFCTLFGMITAVGLSNLQFVDMNSSRNLFVLGFSMFFGLTLPNYLESNPG
  AINTGILEVDQILIVLLTTEMFVGGCLAFILDNTVPGSPEERGLIQWKAGAHANSDMSSS
  LKSYDFPIGMGIVKRITFLKYIPICPVFKGFSSSSKDQIAIPEDTPENTETASVCTKV

• Sequence length: 598

Pathways

KEGG:

Vitamin digestion and absorption

Reactome:

Vitamin C (ascorbate) metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL HEMORRHAGES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23990905		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18791929		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	18791929		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	24708273		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25102111		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25102111	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29593282	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15340249		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	30442817	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28385602		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	18706437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	23708151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choriocarcinoma	Choriocarcinoma	BEFREE	17901237, 22745243		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26838684		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	24708273		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34780525	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24284447	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27012422		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30054560		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18791929	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	24284447		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	24284447	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	14993613		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24401033		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24578608	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	22171153		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	22171153	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22171153, 23401652	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22171153, 23401652		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23859461	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	25821969	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19346260		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19346260	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	26774673		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29939348		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24284447, 29631379		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31607868		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31467227		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18636124		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	18636124		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	19346260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25102111, 29593282		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19243932		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30054560		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27012422		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30902760		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	23299920, 25821969	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	25948669		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	25948669	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27012422, 28012930		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19054284		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24401033	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CTD_human_DG	11984597		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	25821969	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	25821969		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24578608		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19346260	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19243932		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19243932	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	24578608	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24284447		★☆☆☆☆ Found in Text Mining only