• Gene id: 9963

Gene Summary

• Gene Symbol: SLC23A1   Gene   UCSC   Ensembl
• Aliases: SLC23A2, SVCT1, YSPL3
• Gene name: solute carrier family 23 member 1
• Alternate names: solute carrier family 23 member 1, 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 carrie,
• Gene location: 5q31.2 (139384552: 139367195)     Exons: 17     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 604058

Protein Summary

• Protein general information: Q9UHI7  
  • 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)
  • Length: 598  
  • Mass: 64831
  • Tissue specificity: Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in fetal kidney, liver and thymus.
• Sequence:

  MRAQEDLEGRTQHETTRDPSTPLPTEPKFDMLYKIEDVPPWYLCILLGFQHYLTCFSGTIAVPFLLAEALCVGHD
  QHMVSQLIGTIFTCVGITTLIQTTVGIRLPLFQASAFAFLVPAKAILALERWKCPPEEEIYGNWSLPLNTSHIWH
  PRIREVQGAIMVSSVVEVVIGLLGLPGALLNYIGPLTVTPTVSLIGLSVFQAAGDRAGSHWGISACSILLIILFS
  QYLRNLTFLLPVYRWGKGLTLLRIQIFKMFPIMLAIMTVWLLCYVLTLTDVLPTDPKAYGFQARTDARGDIMAIA
  PWIRIPYPCQWGLPTVTAAAVLGMFSATLAGIIESIGDYYACARLAGAPPPPVHAINRGIFTEGICCIIAGLLGT
  GNGSTSSSPNIGVLGITKVGSRRVVQYGAAIMLVLGTIGKFTALFSSLPDPILGGMFCTLFGMITAVGLSNLQFV
  DMNSSRNLFVLGFSMFFGLTLPNYLESNPGAINTGILEVDQILIVLLTTEMFVGGCLAFILDNTVPGSPEERGLI
  QWKAGAHANSDMSSSLKSYDFPIGMGIVKRITFLKYIPICPVFKGFSSSSKDQIAIPEDTPENTETASVCTKV

• Structural information:
  • Interpro: IPR029954  IPR006043  
  • STRING: ENSP00000302851
• Other Databases: GeneCards:  SLC23A1  Malacards:  SLC23A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0015882	L-ascorbic acid transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0015205	nucleobase transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0015851	nucleobase transport	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019852	L-ascorbic acid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0015229	L-ascorbic acid transmembrane transporter activity	IEA	molecular function
GO:0015882	L-ascorbic acid transmembrane transport	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0043229	intracellular organelle	IDA	cellular component
GO:0009636	response to toxic substance	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0008520	L-ascorbate:sodium symporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0015081	sodium ion transmembrane transporter activity	IDA	molecular function
GO:0006814	sodium ion transport	IDA	biological process
GO:0070904	transepithelial L-ascorbic acid transport	IDA	biological process
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IDA	molecular function
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IDA	molecular function
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070837	dehydroascorbic acid transport	IMP	biological process
GO:0033300	dehydroascorbic acid transmembrane transporter activity	IMP	molecular function
GO:0007420	brain development	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq