SLC22A18

SLC22A18
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; OMA:SLC22A18 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11p15.4 Start 2,899,721 bp [1] End 2,925,246 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 F5|7 88.22 cM Start 143,027,473 bp [2] End 143,053,071 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon duodenum right lobe of liver human kidney right auricle of heart blood left testis right testis stromal cell of endometrium granulocyte Top expressed in right kidney human kidney lumbar spinal ganglion left lobe of liver proximal tubule duodenum gastric mucosa mucous cell of stomach epithelium of stomach pyloric antrum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function symporter activity xenobiotic transmembrane transporter activity ubiquitin protein ligase binding transporter activity transmembrane transporter activity Cellular component cytoplasm integral component of membrane plasma membrane nuclear envelope membrane apical plasma membrane Biological process organic cation transport excretion ion transport transmembrane transport xenobiotic transmembrane transport xenobiotic export transport xenobiotic transport xenobiotic detoxification by transmembrane export across the plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5002 18400 Ensembl ENSG00000276130 ENSG00000110628 ENSMUSG00000000154 UniProt Q96BI1 Q78KK3 RefSeq (mRNA) NM_002555 NM_183233 NM_001315501 NM_001315502 NM_001042760 NM_008767 RefSeq (protein) NP_001302430 NP_001302431 NP_002546 NP_899056 NP_001036225 NP_032793 Location (UCSC) Chr 11: 2.9 – 2.93 Mb Chr 7: 143.03 – 143.05 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

• Solute carrier family

References

1. ENSG00000110628 GRCh38: Ensembl release 89: ENSG00000276130, ENSG00000110628 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000154 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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. Bibcode:1998FEBSL.433..245R. 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.