SLC6A20
| SLC6A20 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | SLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20 | |||||
| External IDs | MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20 | |||||
| Genetically Related Diseases | ||||||
| smallpox[1] | ||||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 3: 45.76 – 45.8 Mb | Chr 9: 123.64 – 123.68 Mb | ||||
| PubMed search | [2] | [3] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[4][5]
Function
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl− coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.[6]
Clinical significance
Mutation in the SLC6A20 gene are associated with iminoglycinuria.[7]
References
- ↑ "Diseases that are genetically associated with SLC6A20 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Recept. Channels. 6 (2): 113–28. PMID 9932288.
- ↑ Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP (April 2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics. 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561.
- ↑ "Entrez Gene: ADCY10".
- ↑ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (November 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC 2579706
. PMID 19033659.
Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Nash SR, Giros B, Kingsmore SF, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms.". Recept. Channels. 6 (2): 113–28. PMID 9932288.
- Bröer A, Balkrishna S, Kottra G, Davis S, Oakley A, Bröer S (August 2009). "Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20)". Mol. Membr. Biol. 26 (5): 333–46. doi:10.1080/09687680903150027. PMID 19657969.
- Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
- Takanaga H, Mackenzie B, Suzuki Y, Hediger MA (2005). "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino.". J. Biol. Chem. 280 (10): 8974–84. doi:10.1074/jbc.M413027200. PMID 15632147.
- Kanei-Ishii C, Nomura T, Tanikawa J, et al. (2004). "Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation.". J. Biol. Chem. 279 (43): 44582–9. doi:10.1074/jbc.M407831200. PMID 15308626.
- Kiss H, Kedra D, Kiss C, et al. (2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3.". Genomics. 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561.
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