Q9UHI7 (S23A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 101.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Solute carrier family 23 member 1 Alternative name(s): Na(+)/L-ascorbic acid transporter 1 Sodium-dependent vitamin C transporter 1 Short name=hSVCT1 Yolk sac permease-like molecule 3 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 598 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na+ for each ascorbate. |
| Subcellular location | |
| Tissue specificity | Highly expressed in adult small intestine, kidney, thymus, ovary, colon, prostate and liver, and in fetal kidney, liver and thymus. |
| Post-translational modification | Phosphorylated Probable. |
| Miscellaneous | Treatment with the protein kinase C stimulator PMA results in a 10-fold decrease in ascorbate accumulation in transfected cells. |
| Sequence similarities | Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. [View classification] |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| NCK1 | P16333 | 2 | EBI-1759386,EBI-389883 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: Experimental confirmation may be lacking for some isoforms. | ||||||
| Isoform 1 (identifier: Q9UHI7-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9UHI7-2) The sequence of this isoform differs from the canonical sequence as follows: 156-156: V → VGLHV | ||||||
| Note: Inactive. | ||||||
| Isoform 3 (identifier: Q9UHI7-3) The sequence of this isoform differs from the canonical sequence as follows: 92-430: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 598 | 598 | Solute carrier family 23 member 1 | PRO_0000165975 | |||||
Regions | |||||||||
| Transmembrane | 53 – 73 | 21 | Helical; Potential | ||||||
| Transmembrane | 82 – 102 | 21 | Helical; Potential | ||||||
| Transmembrane | 104 – 124 | 21 | Helical; Potential | ||||||
| Transmembrane | 160 – 180 | 21 | Helical; Potential | ||||||
| Transmembrane | 208 – 228 | 21 | Helical; Potential | ||||||
| Transmembrane | 251 – 271 | 21 | Helical; Potential | ||||||
| Transmembrane | 313 – 333 | 21 | Helical; Potential | ||||||
| Transmembrane | 359 – 379 | 21 | Helical; Potential | ||||||
| Transmembrane | 403 – 423 | 21 | Helical; Potential | ||||||
| Transmembrane | 427 – 447 | 21 | Helical; Potential | ||||||
| Transmembrane | 458 – 478 | 21 | Helical; Potential | ||||||
| Transmembrane | 491 – 511 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 596 | 1 | Phosphothreonine By similarity | ||||||
| Glycosylation | 138 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 144 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 230 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 92 – 430 | 339 | Missing in isoform 3. | VSP_006813 | |||||
| Alternative sequence | 156 | 1 | V → VGLHV in isoform 2. | VSP_006814 | |||||
| Natural variant | 218 | 1 | I → V. Corresponds to variant rs34521685 [ dbSNP | Ensembl ]. | VAR_053451 | |||||
| Natural variant | 258 | 1 | M → V. Corresponds to variant rs35817838 [ dbSNP | Ensembl ]. | VAR_053452 | |||||
| Natural variant | 264 | 1 | V → M. Corresponds to variant rs33972313 [ dbSNP | Ensembl ]. | VAR_053453 | |||||
| Natural variant | 421 | 1 | S → A. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Ref.8 Corresponds to variant rs6596474 [ dbSNP | Ensembl ]. | VAR_062111 | |||||
Experimental info | |||||||||
| Sequence conflict | 11 | 1 | T → A in AAF24759. Ref.2 | ||||||
| Sequence conflict | 52 – 57 | 6 | YLTCFS → IHDCLR in AAC78804. Ref.1 | ||||||
| Sequence conflict | 75 – 80 | 6 | DQHMVS → SQTLHC in AAC78804. Ref.1 | ||||||
| Sequence conflict | 139 | 1 | W → S in AAC78804. Ref.1 | ||||||
| Sequence conflict | 153 | 1 | I → N in AAC78804. Ref.1 | ||||||
| Sequence conflict | 155 | 1 | E → D in AAF22490. Ref.2 | ||||||
| Sequence conflict | 182 – 183 | 2 | YI → SL in AAC78804. Ref.1 | ||||||
| Sequence conflict | 207 | 1 | A → P in AAC78804. Ref.1 | ||||||
| Sequence conflict | 269 | 1 | Y → I in AAC78804. Ref.1 | ||||||
| Sequence conflict | 275 | 1 | D → E in AAF22490. Ref.2 | ||||||
| Sequence conflict | 284 | 1 | Y → I in AAC78804. Ref.1 | ||||||
| Sequence conflict | 434 | 1 | T → S in AAC78804. Ref.1 | ||||||
| Sequence conflict | 451 – 452 | 2 | DM → AL in AAC78804. Ref.1 | ||||||
| Sequence conflict | 476 – 477 | 2 | ES → SP in AAF22490. Ref.2 | ||||||
| Sequence conflict | 548 | 1 | I → F in AAC78804. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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." Faaland C.A., Race J.E., Ricken G., Warner F.J., Williams W.J., Holtzman E.J. Biochim. Biophys. Acta 1442:353-360(1998) [PubMed: 9804989] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421. Tissue: Fetal liver and Kidney. |
| [2] | "Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant." Wang H., Dutta B., Huang W., Devoe L.D., Leibach F.H., Ganapathy V., Prasad P.D. Biochim. Biophys. Acta 1461:1-9(1999) [PubMed: 10556483] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT ALA-421. Tissue: Intestinal epithelium. |
| [3] | "Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2." Daruwala R.C., Song J., Koh W.S., Rumsey S.C., Levine M. FEBS Lett. 460:480-484(1999) [PubMed: 10556521] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421. Tissue: Kidney. |
| [4] | "Human vitamin C (L-ascorbic acid) transporter SVCT1." Wang Y., Mackenzie B., Tsukaguchi H., Weremowicz S., Morton C.C., Hediger M.A. Biochem. Biophys. Res. Commun. 267:488-494(2000) [PubMed: 10631088] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421. Tissue: Kidney. |
| [5] | "Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2)." Erichsen H.C., Eck P., Levine M., Chanock S. J. Nutr. 131:2623-2627(2001) [PubMed: 11584081] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT ALA-421. |
| [6] | "Vitamin C transport systems of mammalian cells." Liang W.J., Johnson D., Jarvis S.M. Mol. Membr. Biol. 18:87-95(2001) [PubMed: 11396616] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-421. Tissue: Liver cancer. |
| [7] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. Rubin E.M.Nature 431:268-274(2004) [PubMed: 15372022] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ALA-421. Tissue: Colon and Kidney. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF058317 mRNA. Translation: AAC78804.1. AF170911 mRNA. Translation: AAF24759.1. AJ269477 mRNA. Translation: CAB58119.1. AF098277 mRNA. Translation: AAF22490.1. AF375875 Genomic DNA. Translation: AAK97398.1. AJ250807 mRNA. Translation: CAC15384.1. AC135457 Genomic DNA. No translation available. BC019225 mRNA. Translation: AAH19225.1. BC050261 mRNA. Translation: AAH50261.1. |
| IPI | IPI00220368. IPI00220369. IPI00303368. |
| PIR | JC7182. |
| RefSeq | NP_005838.3. NM_005847.4. NP_689898.2. NM_152685.3. |
| UniGene | Hs.643467. |
3D structure databases | |
| ProteinModelPortal | Q9UHI7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UHI7. 4 interactions. |
| MINT | MINT-6945553. |
| STRING | Q9UHI7. |
PTM databases | |
| PhosphoSite | Q9UHI7. |
Polymorphism databases | |
| DMDM | 296452969. |
Proteomic databases | |
| PRIDE | Q9UHI7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000348729; ENSP00000302701; ENSG00000170482. |
| GeneID | 9963. |
| KEGG | hsa:9963. |
| UCSC | uc003leg.1. human. uc003leh.1. human. |
Organism-specific databases | |
| CTD | 9963. |
| GeneCards | GC05M138702. |
| HGNC | HGNC:10974. SLC23A1. |
| MIM | 603790. gene. |
| neXtProt | NX_Q9UHI7. |
| PharmGKB | PA35850. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG14278. |
| GeneTree | ENSGT00390000015686. |
| HOVERGEN | HBG056256. |
| OMA | PKAYGFQ. |
| OrthoDB | EOG4C2H99. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
Gene expression databases | |
| ArrayExpress | Q9UHI7. |
| Bgee | Q9UHI7. |
| CleanEx | HS_SLC23A1. |
| Genevestigator | Q9UHI7. |
| GermOnline | ENSG00000170482. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006043. Xant/urac/vitC. [Graphical view] |
| KO | K14611. |
| PANTHER | PTHR11119. Xant/urac/vitC. 1 hit. |
| Pfam | PF00860. Xan_ur_permease. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB00126. Vitamin C. |
| NextBio | 37598. |
| SOURCE | Search... |
Entry information
| Entry name | S23A1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UHI7 Secondary accession number(s): O95191 Q9UI39 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with