SLC26A3: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC26A3 solute carrier family 26, member 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1811| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Solute carrier family 26, member 3
| HGNCid = 3018
| Symbol = SLC26A3
| AltSymbols =; CLD; DRA
| OMIM = 126650
| ECnumber = 
| Homologene = 55435
| MGIid = 107181
| GeneAtlas_image1 = PBB_GE_SLC26A3_206143_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003712 |text = transcription cofactor activity}} {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0008271 |text = secondary active sulfate transmembrane transporter activity}} {{GNF_GO|id=GO:0015297 |text = antiporter activity}} {{GNF_GO|id=GO:0015380 |text = anion exchanger activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006820 |text = anion transport}} {{GNF_GO|id=GO:0007588 |text = excretion}} {{GNF_GO|id=GO:0008272 |text = sulfate transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1811
    | Hs_Ensembl = ENSG00000091138
    | Hs_RefseqProtein = NP_000102
    | Hs_RefseqmRNA = NM_000111
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 107193156
    | Hs_GenLoc_end = 107230906
    | Hs_Uniprot = P40879
    | Mm_EntrezGene = 13487
    | Mm_Ensembl = ENSMUSG00000001225
    | Mm_RefseqmRNA = XM_988690
    | Mm_RefseqProtein = XP_993784
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 32024267
    | Mm_GenLoc_end = 32059683
    | Mm_Uniprot = Q8JZU8
  }}
}}
'''Solute carrier family 26, member 3''', also known as '''SLC26A3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC26A3 solute carrier family 26, member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1811| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
The downregulated-in-adenoma (DRA) is a [[membrane protein]] in [[Enterocyte|intestinal cells]]. It is an [[Ion exchange|anion exchanger]] and a member of the [[sulfate anion transporter]] (SAT) family. It mediates [[chloride]] and [[bicarbonate]] exchange and additionally transports [[sulfate]] and other [[anion]]s 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.<ref name="pmid12372813">{{cite journal | vauthors = Sterling D, Brown NJ, Supuran CT, Casey JR | title = The functional and physical relationship between the DRA bicarbonate transporter and carbonic anhydrase II | journal = American Journal of Physiology. Cell Physiology | volume = 283 | issue = 5 | pages = C1522-9 | date = November 2002 | pmid = 12372813 | doi = 10.1152/ajpcell.00115.2002 }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: SLC26A3 solute carrier family 26, member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1811| accessdate = }}</ref>
}}


==See also==
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 cell]]s, and is instrumental in chloride reuptake, aiding in the creation of an osmotic gradient for resorption of fluid from the lumen of the intestine.<ref name="pmid22159277">{{cite journal | vauthors = Singla A, Kumar A, Priyamvada S, Tahniyath M, Saksena S, Gill RK, Alrefai WA, Dudeja PK | title = LPA stimulates intestinal DRA gene transcription via LPA2 receptor, PI3K/AKT, and c-Fos-dependent pathway | journal = American Journal of Physiology. Gastrointestinal and Liver Physiology | volume = 302 | issue = 6 | pages = G618-27 | date = March 2012 | pmid = 22159277 | doi = 10.1152/ajpgi.00172.2011 | pmc = 3311307 }}</ref>
 
== Clinical significance ==
 
Mutations in this gene have been associated with [[congenital chloride diarrhoea]],<ref name="entrez" /> a treatable disease.
 
The congenital absence of this membrane protein results in an [[Dominance relationship|autosomal recessive disorder]] called [[congenital chloridorrhea]] or [[congenital chloride diarrhea]] (CLD).<ref name="pmid17761837">{{cite journal | vauthors = Alrefai WA, Wen X, Jiang W, Katz JP, Steinbrecher KA, Cohen MB, Williams IR, Dudeja PK, Wu GD | title = Molecular cloning and promoter analysis of downregulated in adenoma (DRA) | journal = American Journal of Physiology. Gastrointestinal and Liver Physiology | volume = 293 | issue = 5 | pages = G923-34 | date = November 2007 | pmid = 17761837 | doi = 10.1152/ajpgi.00029.2007 }}</ref>
 
== See also ==
* [[Solute carrier family]]
* [[Solute carrier family]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Sandal NN, Marcker KA | title = Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor | journal = Trends in Biochemical Sciences | volume = 19 | issue = 1 | pages = 19 | date = January 1994 | pmid = 8140616 | doi = 10.1016/0968-0004(94)90168-6 }}
| citations =
* {{cite journal | vauthors = Markovich D | title = Physiological roles and regulation of mammalian sulfate transporters | journal = Physiological Reviews | volume = 81 | issue = 4 | pages = 1499–533 | date = October 2001 | pmid = 11581495 | doi =  }}
*{{cite journal | author=Sandal NN, Marcker KA |title=Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor. |journal=Trends Biochem. Sci. |volume=19 |issue= 1 |pages= 19 |year= 1994 |pmid= 8140616 |doi= }}
* {{cite journal | vauthors = Mäkelä S, Kere J, Holmberg C, Höglund P | title = SLC26A3 mutations in congenital chloride diarrhea | journal = Human Mutation | volume = 20 | issue = 6 | pages = 425–38 | date = December 2002 | pmid = 12442266 | doi = 10.1002/humu.10139 }}
*{{cite journal | author=Markovich D |title=Physiological roles and regulation of mammalian sulfate transporters. |journal=Physiol. Rev. |volume=81 |issue= 4 |pages= 1499-533 |year= 2001 |pmid= 11581495 |doi=  }}
* {{cite journal | vauthors = Schweinfest CW, Henderson KW, Suster S, Kondoh N, Papas TS | title = Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 9 | pages = 4166–70 | date = May 1993 | pmid = 7683425 | pmc = 46467 | doi = 10.1073/pnas.90.9.4166 }}
*{{cite journal | author=Mäkelä S, Kere J, Holmberg C, Höglund P |title=SLC26A3 mutations in congenital chloride diarrhea. |journal=Hum. Mutat. |volume=20 |issue= 6 |pages= 425-38 |year= 2002 |pmid= 12442266 |doi= 10.1002/humu.10139 }}
* {{cite journal | vauthors = Taguchi T, Testa JR, Papas TS, Schweinfest C | title = Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization | journal = Genomics | volume = 20 | issue = 1 | pages = 146–7 | date = March 1994 | pmid = 8020951 | doi = 10.1006/geno.1994.1148 }}
*{{cite journal | author=Schweinfest CW, Henderson KW, Suster S, ''et al.'' |title=Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 9 |pages= 4166-70 |year= 1993 |pmid= 7683425 |doi= }}
* {{cite journal | vauthors = Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J | title = Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea | journal = Nature Genetics | volume = 14 | issue = 3 | pages = 316–9 | date = November 1996 | pmid = 8896562 | doi = 10.1038/ng1196-316 }}
*{{cite journal | author=Taguchi T, Testa JR, Papas TS, Schweinfest C |title=Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization. |journal=Genomics |volume=20 |issue= 1 |pages= 146-7 |year= 1994 |pmid= 8020951 |doi= 10.1006/geno.1994.1148 }}
* {{cite journal | vauthors = Byeon MK, Frankel A, Papas TS, Henderson KW, Schweinfest CW | title = Human DRA functions as a sulfate transporter in Sf9 insect cells | journal = Protein Expression and Purification | volume = 12 | issue = 1 | pages = 67–74 | date = February 1998 | pmid = 9473459 | doi = 10.1006/prep.1997.0809 }}
*{{cite journal | author=Höglund P, Haila S, Socha J, ''et al.'' |title=Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 316-9 |year= 1996 |pmid= 8896562 |doi= 10.1038/ng1196-316 }}
* {{cite journal | vauthors = Höglund P, Haila S, Gustavson KH, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J | title = Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene | journal = Human Mutation | volume = 11 | issue = 4 | pages = 321–7 | year = 1998 | pmid = 9554749 | doi = 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A }}
*{{cite journal | author=Byeon MK, Frankel A, Papas TS, ''et al.'' |title=Human DRA functions as a sulfate transporter in Sf9 insect cells. |journal=Protein Expr. Purif. |volume=12 |issue= 1 |pages= 67-74 |year= 1998 |pmid= 9473459 |doi= 10.1006/prep.1997.0809 }}
* {{cite journal | vauthors = Antalis TM, Reeder JA, Gotley DC, Byeon MK, Walsh MD, Henderson KW, Papas TS, Schweinfest CW | title = Down-regulation of the down-regulated in adenoma (DRA) gene correlates with colon tumor progression | journal = Clinical Cancer Research | volume = 4 | issue = 8 | pages = 1857–63 | date = August 1998 | pmid = 9717812 | doi =  }}
*{{cite journal | author=Höglund P, Haila S, Gustavson KH, ''et al.'' |title=Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. |journal=Hum. Mutat. |volume=11 |issue= 4 |pages= 321-7 |year= 1998 |pmid= 9554749 |doi= 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A }}
* {{cite journal | vauthors = Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J | title = Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait | journal = American Journal of Human Genetics | volume = 63 | issue = 3 | pages = 760–8 | date = September 1998 | pmid = 9718329 | pmc = 1377387 | doi = 10.1086/301998 }}
*{{cite journal | author=Antalis TM, Reeder JA, Gotley DC, ''et al.'' |title=Down-regulation of the down-regulated in adenoma (DRA) gene correlates with colon tumor progression. |journal=Clin. Cancer Res. |volume=4 |issue= 8 |pages= 1857-63 |year= 1998 |pmid= 9717812 |doi=  }}
* {{cite journal | vauthors = Lohi H, Kujala M, Kerkelä E, Saarialho-Kere U, Kestilä M, Kere J | title = Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger | journal = Genomics | volume = 70 | issue = 1 | pages = 102–12 | date = November 2000 | pmid = 11087667 | doi = 10.1006/geno.2000.6355 }}
*{{cite journal | author=Höglund P, Auranen M, Socha J, ''et al.'' |title=Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. |journal=Am. J. Hum. Genet. |volume=63 |issue= 3 |pages= 760-8 |year= 1998 |pmid= 9718329 |doi= }}
* {{cite journal | vauthors = Höglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, de Jonge H, Holmberg C, Yoshikawa H, Kere J | title = Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea | journal = Human Mutation | volume = 18 | issue = 3 | pages = 233–42 | date = September 2001 | pmid = 11524734 | doi = 10.1002/humu.1179 }}
*{{cite journal | author=Lohi H, Kujala M, Kerkelä E, ''et al.'' |title=Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. |journal=Genomics |volume=70 |issue= 1 |pages= 102-12 |year= 2001 |pmid= 11087667 |doi= 10.1006/geno.2000.6355 }}
* {{cite journal | vauthors = Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J | title = Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 16 | pages = 14246–54 | date = April 2002 | pmid = 11834742 | doi = 10.1074/jbc.M111802200 }}
*{{cite journal | author=Höglund P, Sormaala M, Haila S, ''et al.'' |title=Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. |journal=Hum. Mutat. |volume=18 |issue= 3 |pages= 233-42 |year= 2001 |pmid= 11524734 |doi= 10.1002/humu.1179 }}
* {{cite journal | vauthors = Lamprecht G, Heil A, Baisch S, Lin-Wu E, Yun CC, Kalbacher H, Gregor M, Seidler U | title = 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 | journal = Biochemistry | volume = 41 | issue = 41 | pages = 12336–42 | date = October 2002 | pmid = 12369822 | doi = 10.1021/bi0259103 }}
*{{cite journal | author=Lohi H, Kujala M, Makela S, ''et al.'' |title=Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. |journal=J. Biol. Chem. |volume=277 |issue= 16 |pages= 14246-54 |year= 2002 |pmid= 11834742 |doi= 10.1074/jbc.M111802200 }}
* {{cite journal | vauthors = Chernova MN, Jiang L, Shmukler BE, Schweinfest CW, Blanco P, Freedman SD, Stewart AK, Alper SL | title = Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes | journal = The Journal of Physiology | volume = 549 | issue = Pt 1 | pages = 3–19 | date = May 2003 | pmid = 12651923 | pmc = 2342915 | doi = 10.1113/jphysiol.2003.039818 }}
*{{cite journal | author=Lamprecht G, Heil A, Baisch S, ''et al.'' |title=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. |journal=Biochemistry |volume=41 |issue= 41 |pages= 12336-42 |year= 2002 |pmid= 12369822 |doi=  }}
*{{cite journal  | author=Sterling D, Brown NJ, Supuran CT, Casey JR |title=The functional and physical relationship between the DRA bicarbonate transporter and carbonic anhydrase II. |journal=Am. J. Physiol., Cell Physiol. |volume=283 |issue= 5 |pages= C1522-9 |year= 2002 |pmid= 12372813 |doi= 10.1152/ajpcell.00115.2002 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Chernova MN, Jiang L, Shmukler BE, ''et al.'' |title=Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes. |journal=J. Physiol. (Lond.) |volume=549 |issue= Pt 1 |pages= 3-19 |year= 2004 |pmid= 12651923 |doi= 10.1113/jphysiol.2003.039818 }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}

Latest revision as of 19:12, 15 May 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. 1.0 1.1 "Entrez Gene: SLC26A3 solute carrier family 26, member 3".
  2. Sterling D, Brown NJ, Supuran CT, Casey JR (November 2002). "The functional and physical relationship between the DRA bicarbonate transporter and carbonic anhydrase II". American Journal of Physiology. Cell Physiology. 283 (5): C1522–9. doi:10.1152/ajpcell.00115.2002. PMID 12372813.
  3. Singla A, Kumar A, Priyamvada S, Tahniyath M, Saksena S, Gill RK, Alrefai WA, Dudeja PK (March 2012). "LPA stimulates intestinal DRA gene transcription via LPA2 receptor, PI3K/AKT, and c-Fos-dependent pathway". American Journal of Physiology. Gastrointestinal and Liver Physiology. 302 (6): G618–27. doi:10.1152/ajpgi.00172.2011. PMC 3311307. PMID 22159277.
  4. Alrefai WA, Wen X, Jiang W, Katz JP, Steinbrecher KA, Cohen MB, Williams IR, Dudeja PK, Wu GD (November 2007). "Molecular cloning and promoter analysis of downregulated in adenoma (DRA)". American Journal of Physiology. Gastrointestinal and Liver Physiology. 293 (5): G923–34. doi:10.1152/ajpgi.00029.2007. PMID 17761837.

Further reading

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