Chloride anion exchanger
Template:PBB Solute carrier family 26, member 3, also known as CLD (chloride anion exchanger), or DRA (downregulated-in-adenoma) is a protein that in humans is encoded by the SLC26A3 gene.[1]
Function
The downregulated-in-adenoma (DRA) is a membrane protein in intestinal cells. It is an anion exchanger and a member of the sulfate anion transporter (SAT) family. It mediates chloride and bicarbonate exchange and additionally transports sulfate and other anions at the apical membrane, part of the plasma membrane of enterocytes. It is different from the anion exchanger that present in erythrocytes, renal tubule, and several other tissues.[2]
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, and is instrumental in chloride reuptake, aiding in the creation of an osmotic gradient for resorption of fluid from the lumen of the intestine.[3]
Clinical significance
Mutations in this gene have been associated with congenital chloride diarrhoea,[1] a treatable disease.
The congenital absence of this membrane protein results in an autosomal recessive disorder called congenital chloridorrhea or congenital chloride diarrhea (CLD).[4]
See also
References
- ^ a b "Entrez Gene: SLC26A3 solute carrier family 26, member 3".
- ^ 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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Singla A, Kumar A, Priyamvada S, Tahniyath M, Saksena S, Gill RK, Alrefai WA, Dudeja PK (2011). "LPA Stimulates Intestinal DRA Gene Transcription via LPA2 Receptor, PI3K/AKT and c-fos Dependent Pathway". Am J Physiol Gastrointest Liver Physiol. doi:10.1152/ajpgi.00172.2011. PMID 22159277.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Alrefai WA, Wen X, Jiang W, Katz JP, Steinbrecher KA, Cohen MB, Williams IR, Dudeja PK, Wu GD (2007). "Molecular cloning and promoter analysis of downregulated in adenoma (DRA)". Am. J. Physiol. Gastrointest. Liver Physiol. 293 (5): G923–34. doi:10.1152/ajpgi.00029.2007. PMID 17761837.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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. doi:10.1016/0968-0004(94)90168-6. 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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. doi:10.1073/pnas.90.9.4166. PMC 46467. PMID 7683425.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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. doi:10.1086/301998. PMC 1377387. PMID 9718329.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)CS1 maint: unflagged free DOI (link) - 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. doi:10.1021/bi0259103. PMID 12369822.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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. PMC 139241. PMID 12477932.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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. PMC 2342915. PMID 12651923.
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