| SLC22A18 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC22A18, BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5, p45-BWR1A, solute carrier family 22 member 18 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602631 MGI: 1336884 HomoloGene: 1918 GeneCards: SLC22A18 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Solute carrier family 22 member 18 is a protein that in humans is encoded by the SLC22A18 gene.[5][6][7]
Function
This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region as well as the transport of chloroquine- and quinidine-related compounds in the kidney. Two alternative transcripts encoding the same isoform have been described.[7]
See also
References
- 1 2 3 ENSG00000110628 GRCh38: Ensembl release 89: ENSG00000276130, ENSG00000110628 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000154 - 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.
- ↑ Dao D, Frank D, Qian N, O'Keefe D, Vosatka RJ, Walsh CP, Tycko B (April 1998). "IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes". Human Molecular Genetics. 7 (4): 597–608. doi:10.1093/hmg/7.4.597. PMID 9499412.
- ↑ Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G, Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce CM, Negrini M (March 1998). "Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples". Proceedings of the National Academy of Sciences of the United States of America. 95 (7): 3873–8. Bibcode:1998PNAS...95.3873S. doi:10.1073/pnas.95.7.3873. PMC 19930. PMID 9520460.
- 1 2 "Entrez Gene: SLC22A18 solute carrier family 22 (organic cation transporter), member 18".
Further reading
- Akiyama S (December 2001). "[Mechanisms of drug resistance and reversal of the resistance]". Human Cell. 14 (4): 257–60. PMID 11925925.
- Cooper PR, Smilinich NJ, Day CD, Nowak NJ, Reid LH, Pearsall RS, Reece M, Prawitt D, Landers J, Housman DE, Winterpacht A, Zabel BU, Pelletier J, Weissman BE, Shows TB, Higgins MJ (April 1998). "Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain". Genomics. 49 (1): 38–51. doi:10.1006/geno.1998.5221. PMID 9570947.
- Reece M, Prawitt D, Landers J, Kast C, Gros P, Housman D, Zabel BU, Pelletier J (August 1998). "Functional characterization of ORCTL2--an organic cation transporter expressed in the renal proximal tubules". FEBS Letters. 433 (3): 245–50. doi:10.1016/S0014-5793(98)00907-7. PMID 9744804. S2CID 6967408.
- Lee MP, Reeves C, Schmitt A, Su K, Connors TD, Hu RJ, Brandenburg S, Lee MJ, Miller G, Feinberg AP (September 1998). "Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5". Cancer Research. 58 (18): 4155–9. PMID 9751628.
- Morisaki H, Hatada I, Morisaki T, Mukai T (August 1998). "A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in mice". DNA Research. 5 (4): 235–40. CiteSeerX 10.1.1.505.8561. doi:10.1093/dnares/5.4.235. PMID 9802569.
- Onyango P, Miller W, Lehoczky J, Leung CT, Birren B, Wheelan S, Dewar K, Feinberg AP (November 2000). "Sequence and comparative analysis of the mouse 1-megabase region orthologous to the human 11p15 imprinted domain". Genome Research. 10 (11): 1697–710. doi:10.1101/gr.161800. PMID 11076855.
- Yamada HY, Gorbsky GJ (March 2006). "Tumor suppressor candidate TSSC5 is regulated by UbcH6 and a novel ubiquitin ligase RING105". Oncogene. 25 (9): 1330–9. doi:10.1038/sj.onc.1209167. PMC 2713668. PMID 16314844.
- Gallagher E, Mc Goldrick A, Chung WY, Mc Cormack O, Harrison M, Kerin M, Dervan PA, Mc Cann A (July 2006). "Gain of imprinting of SLC22A18 sense and antisense transcripts in human breast cancer". Genomics. 88 (1): 12–7. doi:10.1016/j.ygeno.2006.02.004. PMID 16624517.
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