SLC26A3
| Solute carrier family 26, member 3 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | SLC26A3 ; CLD; DRA | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 55435 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE SLC26A3 206143 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Solute carrier family 26, member 3, also known as SLC26A3, is a human gene.[1]
The protein encoded by this gene is a transmembrane glycoprotein that functions as a sulfate transporter. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. Mutations in this gene have been associated with congenital chloride diarrhea.[1]
See also
References
Further reading
- Sandal NN, Marcker KA (1994). "Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor". Trends Biochem. Sci. 19 (1): 19. PMID 8140616.
- Markovich D (2001). "Physiological roles and regulation of mammalian sulfate transporters". Physiol. Rev. 81 (4): 1499–533. PMID 11581495.
- Mäkelä S, Kere J, Holmberg C, Höglund P (2002). "SLC26A3 mutations in congenital chloride diarrhea". Hum. Mutat. 20 (6): 425–38. doi:10.1002/humu.10139. PMID 12442266.
- Schweinfest CW, Henderson KW, Suster S; et al. (1993). "Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas". Proc. Natl. Acad. Sci. U.S.A. 90 (9): 4166–70. PMID 7683425.
- Taguchi T, Testa JR, Papas TS, Schweinfest C (1994). "Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization". Genomics. 20 (1): 146–7. doi:10.1006/geno.1994.1148. PMID 8020951.
- Höglund P, Haila S, Socha J; et al. (1996). "Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea". Nat. Genet. 14 (3): 316–9. doi:10.1038/ng1196-316. PMID 8896562.
- Byeon MK, Frankel A, Papas TS; et al. (1998). "Human DRA functions as a sulfate transporter in Sf9 insect cells". Protein Expr. Purif. 12 (1): 67–74. doi:10.1006/prep.1997.0809. PMID 9473459.
- Höglund P, Haila S, Gustavson KH; et al. (1998). "Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene". Hum. Mutat. 11 (4): 321–7. doi:10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A. PMID 9554749.
- Antalis TM, Reeder JA, Gotley DC; et al. (1998). "Down-regulation of the down-regulated in adenoma (DRA) gene correlates with colon tumor progression". Clin. Cancer Res. 4 (8): 1857–63. PMID 9717812.
- Höglund P, Auranen M, Socha J; et al. (1998). "Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait". Am. J. Hum. Genet. 63 (3): 760–8. PMID 9718329.
- Lohi H, Kujala M, Kerkelä E; et al. (2001). "Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger". Genomics. 70 (1): 102–12. doi:10.1006/geno.2000.6355. PMID 11087667.
- Höglund P, Sormaala M, Haila S; et al. (2001). "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea". Hum. Mutat. 18 (3): 233–42. doi:10.1002/humu.1179. PMID 11524734.
- Lohi H, Kujala M, Makela S; et al. (2002). "Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9". J. Biol. Chem. 277 (16): 14246–54. doi:10.1074/jbc.M111802200. PMID 11834742.
- Lamprecht G, Heil A, Baisch S; et al. (2002). "The down regulated in adenoma (dra) gene product binds to the second PDZ domain of the NHE3 kinase A regulatory protein (E3KARP), potentially linking intestinal Cl-/HCO3- exchange to Na+/H+ exchange". Biochemistry. 41 (41): 12336–42. PMID 12369822.
- Sterling D, Brown NJ, Supuran CT, Casey JR (2002). "The functional and physical relationship between the DRA bicarbonate transporter and carbonic anhydrase II". Am. J. Physiol., Cell Physiol. 283 (5): C1522–9. doi:10.1152/ajpcell.00115.2002. PMID 12372813.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. PMID 12477932.
- Chernova MN, Jiang L, Shmukler BE; et al. (2004). "Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes". J. Physiol. (Lond.). 549 (Pt 1): 3–19. doi:10.1113/jphysiol.2003.039818. PMID 12651923.
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