SLC4A11: Difference between revisions

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Revision as of 06:34, 11 September 2017

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.^[1]^[2]^[3]^[4]

References

↑ Luong A, Hannah VC, Brown MS, Goldstein JL (Sep 2000). "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins". J Biol Chem. 275 (34): 26458–66. doi:10.1074/jbc.M004160200. PMID 10843999.
↑ Parker MD, Ourmozdi EP, Tanner MJ (Apr 2001). "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun. 282 (5): 1103–9. doi:10.1006/bbrc.2001.4692. PMID 11302728.
↑ Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (Jun 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet. 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101.
↑ "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11".

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Callaghan M, Hand CK, Kennedy SM, et al. (1999). "Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct". The British journal of ophthalmology. 83 (1): 115–9. doi:10.1136/bjo.83.1.115. PMC 1722772. PMID 10209448.
Hand CK, Harmon DL, Kennedy SM, et al. (1999). "Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping". Genomics. 61 (1): 1–4. doi:10.1006/geno.1999.5920. PMID 10512674.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
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.
Moroi SE, Gokhale PA, Schteingart MT, et al. (2003). "Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy". Am. J. Ophthalmol. 135 (4): 461–70. doi:10.1016/S0002-9394(02)02032-9. PMID 12654361.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Park M, Li Q, Shcheynikov N, et al. (2004). "NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation". Mol. Cell. 16 (3): 331–41. doi:10.1016/j.molcel.2004.09.030. PMID 15525507.
Jiao X, Sultana A, Garg P, et al. (2007). "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11". J. Med. Genet. 44 (1): 64–8. doi:10.1136/jmg.2006.044644. PMC 2597914. PMID 16825429.
Desir J, Moya G, Reish O, et al. (2007). "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy". J. Med. Genet. 44 (5): 322–6. doi:10.1136/jmg.2006.046904. PMC 2597979. PMID 17220209.
Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS (2007). "Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11". Mol. Vis. 13: 39–46. PMC 2503190. PMID 17262014.
Ramprasad VL, Ebenezer ND, Aung T, et al. (2007). "Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online". Hum. Mutat. 28 (5): 522–3. doi:10.1002/humu.9487. PMID 17397048.
Aldave AJ, Yellore VS, Bourla N, et al. (2007). "Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11". Cornea. 26 (7): 896–900. doi:10.1097/ICO.0b013e318074bb01. PMID 17667634.
Sultana A, Garg P, Ramamurthy B, et al. (2007). "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy". Mol. Vis. 13: 1327–32. PMID 17679935.

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[pmid10843999-1] Luong A, Hannah VC, Brown MS, Goldstein JL (Sep 2000). "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins". J Biol Chem. 275 (34): 26458–66. doi:10.1074/jbc.M004160200. PMID 10843999.

[pmid11302728-2] Parker MD, Ourmozdi EP, Tanner MJ (Apr 2001). "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun. 282 (5): 1103–9. doi:10.1006/bbrc.2001.4692. PMID 11302728.

[pmid16767101-3] Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (Jun 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet. 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101.

[entrez-4] "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11".

[1]

[2]

[3]

[4]

@@ Line 1: / Line 1: @@
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+{{Infobox_gene}}
-{{PBB_Controls
+'''Sodium bicarbonate transporter-like protein 11''' is a [[protein]] that in humans is encoded by the ''SLC4A11'' [[gene]].<ref name="pmid10843999">{{cite journal | vauthors = Luong A, Hannah VC, Brown MS, Goldstein JL | title = Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins | journal = J Biol Chem | volume = 275 | issue = 34 | pages = 26458–66 |date=Sep 2000 | pmid = 10843999 | pmc =  | doi = 10.1074/jbc.M004160200 }}</ref><ref name="pmid11302728">{{cite journal | vauthors = Parker MD, Ourmozdi EP, Tanner MJ | title = Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney | journal = Biochem Biophys Res Commun | volume = 282 | issue = 5 | pages = 1103–9 |date=Apr 2001 | pmid = 11302728 | pmc =  | doi = 10.1006/bbrc.2001.4692 }}</ref><ref name="pmid16767101">{{cite journal | vauthors = Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T | title = Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) | journal = Nat Genet | volume = 38 | issue = 7 | pages = 755–7 |date=Jun 2006 | pmid = 16767101 | pmc =  | doi = 10.1038/ng1824 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83959| accessdate = }}</ref>
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-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Solute carrier family 4, sodium bicarbonate transporter-like, member 11
- | HGNCid = 16438
- | Symbol = SLC4A11
- | AltSymbols =; CHED2; NABC1; BTR1; MGC126418; MGC126419; dJ794I6.2
- | OMIM = 610206
- | ECnumber =
- | Homologene = 12931
- | MGIid = 2138987
-  | Function = {{GNF_GO|id=GO:0005452 |text = inorganic anion exchanger activity}}
- | Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
- | Process = {{GNF_GO|id=GO:0006820 |text = anion transport}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 83959
-    | Hs_Ensembl = ENSG00000088836
-    | Hs_RefseqProtein = NP_114423
-    | Hs_RefseqmRNA = NM_032034
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 20
-    | Hs_GenLoc_start = 3156063
-    | Hs_GenLoc_end = 3167836
-    | Hs_Uniprot = Q8NBS3
-    | Mm_EntrezGene = 269356
-    | Mm_Ensembl = ENSMUSG00000074796
-    | Mm_RefseqmRNA = XM_194050
-    | Mm_RefseqProtein = XP_194050
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 2
-    | Mm_GenLoc_start = 130375555
-    | Mm_GenLoc_end = 130380006
-    | Mm_Uniprot =
-  }}
-}}
-'''Solute carrier family 4, sodium bicarbonate transporter-like, member 11''', also known as '''SLC4A11''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83959| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{PBB_Summary
-| section_title =
-| summary_text =
-}}
 ==See also==
 * [[Solute carrier family]]
+* [[Congenital endothelial dystrophy type 2]]
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791  }}
-| citations =
+*{{cite journal   |vauthors=Callaghan M, Hand CK, Kennedy SM, etal |title=Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct |journal=The British journal of ophthalmology |volume=83 |issue= 1 |pages= 115–9 |year= 1999 |pmid= 10209448 |doi=10.1136/bjo.83.1.115  | pmc=1722772  }}
-*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
+*{{cite journal   |vauthors=Hand CK, Harmon DL, Kennedy SM, etal |title=Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping |journal=Genomics |volume=61 |issue= 1 |pages= 1–4 |year= 1999 |pmid= 10512674 |doi= 10.1006/geno.1999.5920 }}
-*{{cite journal  | author=Callaghan M, Hand CK, Kennedy SM, ''et al.'' |title=Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. |journal=The British journal of ophthalmology |volume=83 |issue= 1 |pages= 115-9 |year= 1999 |pmid= 10209448 |doi=  }}
+*{{cite journal   |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
-*{{cite journal  | author=Hand CK, Harmon DL, Kennedy SM, ''et al.'' |title=Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. |journal=Genomics |volume=61 |issue= 1 |pages= 1-4 |year= 1999 |pmid= 10512674 |doi= 10.1006/geno.1999.5920 }}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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  | pmc=139241 }}
-*{{cite journal  | author=Luong A, Hannah VC, Brown MS, Goldstein JL |title=Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins. |journal=J. Biol. Chem. |volume=275 |issue= 34 |pages= 26458-66 |year= 2000 |pmid= 10843999 |doi= 10.1074/jbc.M004160200 }}
+*{{cite journal   |vauthors=Moroi SE, Gokhale PA, Schteingart MT, etal |title=Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy |journal=Am. J. Ophthalmol. |volume=135 |issue= 4 |pages= 461–70 |year= 2003 |pmid= 12654361 |doi=10.1016/S0002-9394(02)02032-9  }}
-*{{cite journal  | author=Parker MD, Ourmozdi EP, Tanner MJ |title=Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. |journal=Biochem. Biophys. Res. Commun. |volume=282 |issue= 5 |pages= 1103-9 |year= 2001 |pmid= 11302728 |doi= 10.1006/bbrc.2001.4692 }}
+*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
-*{{cite journal  | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
+*{{cite journal   |vauthors=Park M, Li Q, Shcheynikov N, etal |title=NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation |journal=Mol. Cell |volume=16 |issue= 3 |pages= 331–41 |year= 2004 |pmid= 15525507 |doi= 10.1016/j.molcel.2004.09.030 }}
-*{{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   |vauthors=Jiao X, Sultana A, Garg P, etal |title=Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 |journal=J. Med. Genet. |volume=44 |issue= 1 |pages= 64–8 |year= 2007 |pmid= 16825429 |doi= 10.1136/jmg.2006.044644  | pmc=2597914 }}
-*{{cite journal  | author=Moroi SE, Gokhale PA, Schteingart MT, ''et al.'' |title=Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. |journal=Am. J. Ophthalmol. |volume=135 |issue= 4 |pages= 461-70 |year= 2003 |pmid= 12654361 |doi=  }}
+*{{cite journal   |vauthors=Desir J, Moya G, Reish O, etal |title=Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy |journal=J. Med. Genet. |volume=44 |issue= 5 |pages= 322–6 |year= 2007 |pmid= 17220209 |doi= 10.1136/jmg.2006.046904  | pmc=2597979 }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | vauthors=Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS |title=Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11 |journal=Mol. Vis. |volume=13 |issue=  |pages= 39–46 |year= 2007 |pmid= 17262014 |doi=  | pmc=2503190  }}
-*{{cite journal  | author=Park M, Li Q, Shcheynikov N, ''et al.'' |title=NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation. |journal=Mol. Cell |volume=16 |issue= 3 |pages= 331-41 |year= 2004 |pmid= 15525507 |doi= 10.1016/j.molcel.2004.09.030 }}
+*{{cite journal   |vauthors=Ramprasad VL, Ebenezer ND, Aung T, etal |title=Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 522–3 |year= 2007 |pmid= 17397048 |doi= 10.1002/humu.9487 }}
-*{{cite journal  | author=Vithana EN, Morgan P, Sundaresan P, ''et al.'' |title=Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). |journal=Nat. Genet. |volume=38 |issue= 7 |pages= 755-7 |year= 2006 |pmid= 16767101 |doi= 10.1038/ng1824 }}
+*{{cite journal   |vauthors=Aldave AJ, Yellore VS, Bourla N, etal |title=Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11 |journal=Cornea |volume=26 |issue= 7 |pages= 896–900 |year= 2007 |pmid= 17667634 |doi= 10.1097/ICO.0b013e318074bb01 }}
-*{{cite journal  | author=Jiao X, Sultana A, Garg P, ''et al.'' |title=Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. |journal=J. Med. Genet. |volume=44 |issue= 1 |pages= 64-8 |year= 2007 |pmid= 16825429 |doi= 10.1136/jmg.2006.044644 }}
+*{{cite journal   |vauthors=Sultana A, Garg P, Ramamurthy B, etal |title=Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy |journal=Mol. Vis. |volume=13 |issue=  |pages= 1327–32 |year= 2007 |pmid= 17679935 |doi=  }}
-*{{cite journal  | author=Desir J, Moya G, Reish O, ''et al.'' |title=Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. |journal=J. Med. Genet. |volume=44 |issue= 5 |pages= 322-6 |year= 2007 |pmid= 17220209 |doi= 10.1136/jmg.2006.046904 }}
-*{{cite journal  | author=Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS |title=Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11. |journal=Mol. Vis. |volume=13 |issue=  |pages= 39-46 |year= 2007 |pmid= 17262014 |doi=  }}
-*{{cite journal  | author=Ramprasad VL, Ebenezer ND, Aung T, ''et al.'' |title=Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 522-3 |year= 2007 |pmid= 17397048 |doi= 10.1002/humu.9487 }}
-*{{cite journal  | author=Aldave AJ, Yellore VS, Bourla N, ''et al.'' |title=Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. |journal=Cornea |volume=26 |issue= 7 |pages= 896-900 |year= 2007 |pmid= 17667634 |doi= 10.1097/ICO.0b013e318074bb01 }}
-*{{cite journal  | author=Sultana A, Garg P, Ramamurthy B, ''et al.'' |title=Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. |journal=Mol. Vis. |volume=13 |issue=  |pages= 1327-32 |year= 2007 |pmid= 17679935 |doi=  }}
-}}
 {{refend}}
+{{Solute carrier family|bg|bg0}}
+[[Category:Solute carrier family]]
 {{membrane-protein-stub}}
-{{Membrane transport proteins}}
-[[Category:Solute carrier family]]
-{{WikiDoc Sources}}

SLC4A11: Difference between revisions

Revision as of 06:34, 11 September 2017

See also

References

Further reading

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