| SLC6A20 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605616 MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[5][6]
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.[7]
Clinical significance
Mutation in the SLC6A20 gene are associated with iminoglycinuria.[8]
One of a cluster of 6 genes (SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1) on chromosome 3 at location 3p21.31 associated with a genetic susceptibility to COVID-19 respiratory failure.[9]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000163817 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036814 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Receptors & Channels. 6 (2): 113–28. PMID 9932288.
- ↑ Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, et al. (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, et al. (December 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". The Journal of Clinical Investigation. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659.
- ↑ Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, et al. (June 2020). "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". The New England Journal of Medicine. 383 (16): 1522–1534. doi:10.1056/NEJMoa2020283. PMC 7315890. PMID 32558485.
Further reading
- Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Receptors & 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)". Molecular Membrane Biology. 26 (5): 333–46. doi:10.1080/09687680903150027. PMID 19657969. S2CID 21001936.
- Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
- Takanaga H, Mackenzie B, Suzuki Y, Hediger MA (March 2005). "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino". The Journal of Biological Chemistry. 280 (10): 8974–84. doi:10.1074/jbc.M413027200. PMID 15632147.
- Kanei-Ishii C, Nomura T, Tanikawa J, Ichikawa-Iwata E, Ishii S (October 2004). "Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation". The Journal of Biological Chemistry. 279 (43): 44582–9. doi:10.1074/jbc.M407831200. PMID 15308626.
- Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, et al. (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.
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