Electrogenic sodium bicarbonate cotransporter 1: Difference between revisions
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'''Electrogenic sodium bicarbonate cotransporter 1''' is a [[membrane transport protein]] that in humans is encoded by the ''SLC4A4'' [[gene]].<ref name="pmid9235899">{{cite journal | author = Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M | title = Cloning and functional expression of a human kidney Na+:HCO3- cotransporter | journal = J Biol Chem | volume = 272 | issue = 31 | pages = 19111–4 | |
'''Electrogenic sodium bicarbonate cotransporter 1''' is a [[membrane transport protein]] that in humans is encoded by the ''SLC4A4'' [[gene]].<ref name="pmid9235899">{{cite journal | author = Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M | title = Cloning and functional expression of a human kidney Na+:HCO3- cotransporter | journal = J Biol Chem | volume = 272 | issue = 31 | pages = 19111–4 |date=Aug 1997 | pmid = 9235899 | pmc = | doi =10.1074/jbc.272.31.19111 }}</ref><ref name="pmid9651366">{{cite journal | author = Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, Kurtz I | title = Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter | journal = J Biol Chem | volume = 273 | issue = 28 | pages = 17689–95 |date=Aug 1998 | pmid = 9651366 | pmc = | doi =10.1074/jbc.273.28.17689 }}</ref><ref name="entrez"/> |
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== Function == |
== Function == |
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== Clinical significance == |
== Clinical significance == |
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NBCe1 may participate in regulation of brain [[extracellular space]] [[pH]]. Some mutations in NBCe1 have been associated with [[Familial hemiplegic migraine]].<ref name="pmid20798035">{{cite journal | author = Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, De Jonghe P, Li Y, Sekine T, Igarashi T, Fujimoto I, Mikoshiba K, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita T, Seki G | title = Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 107 | issue = 36 | pages = 15963–8 | |
NBCe1 may participate in regulation of brain [[extracellular space]] [[pH]]. Some mutations in NBCe1 have been associated with [[Familial hemiplegic migraine]].<ref name="pmid20798035">{{cite journal | author = Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, De Jonghe P, Li Y, Sekine T, Igarashi T, Fujimoto I, Mikoshiba K, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita T, Seki G | title = Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 107 | issue = 36 | pages = 15963–8 |date=September 2010 | pmid = 20798035 | pmc = 2936614 | doi = 10.1073/pnas.1008705107 }}</ref> Other NBCe1 mutations disrupt kidney bicarbonate transport and cause [[proximal renal tubular acidosis]].<ref name="pmid20197274">{{cite journal | author = Zhu Q, Kao L, Azimov R, Newman D, Liu W, Pushkin A, Abuladze N, Kurtz I | title = Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis | journal = J. Biol. Chem. | volume = 285 | issue = 18 | pages = 13416–26 |date=April 2010 | pmid = 20197274 | pmc = 2859501 | doi = 10.1074/jbc.M109.093286 }}</ref> |
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==Splice Variants== |
==Splice Variants== |
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Revision as of 03:29, 30 January 2014
Template:PBB Electrogenic sodium bicarbonate cotransporter 1 is a membrane transport protein that in humans is encoded by the SLC4A4 gene.[1][2][3]
Function
Sodium bicarbonate cotransporters (NBCs) mediate the coupled movement of sodium and bicarbonate ions across the plasma membrane of many cells. This is an electrogenic process with an apparent stoichiometry of 3 bicarbonate ions per sodium ion. Sodium bicarbonate cotransport is involved in bicarbonate secretion/absorption and intracellular pH regulation. Romero and Boron (1999) reviewed NBCs. Soleimani and Burnham (2000) reviewed NBCs and their regulation in physiologic and pathophysiologic states.[supplied by OMIM][3]
Clinical significance
NBCe1 may participate in regulation of brain extracellular space pH. Some mutations in NBCe1 have been associated with Familial hemiplegic migraine.[4] Other NBCe1 mutations disrupt kidney bicarbonate transport and cause proximal renal tubular acidosis.[5]
Splice Variants
NBCe1-A aka kNBC1 (mainly expressed in the kidney)
NBCe1-B aka pNBC1 (expressed in the pancreas and elsewhere)
NBCe1-C (expressed in the brain)
Distribution
The renal SLC4A4 gene product NBCe1-A is specifically expressed in the basolateral membranes of proximal tubule epithelia.
See also
References
- ^ Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M (Aug 1997). "Cloning and functional expression of a human kidney Na+:HCO3- cotransporter". J Biol Chem. 272 (31): 19111–4. doi:10.1074/jbc.272.31.19111. PMID 9235899.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, Kurtz I (Aug 1998). "Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter". J Biol Chem. 273 (28): 17689–95. doi:10.1074/jbc.273.28.17689. PMID 9651366.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ a b "Entrez Gene: SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4".
- ^ Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, De Jonghe P, Li Y, Sekine T, Igarashi T, Fujimoto I, Mikoshiba K, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita T, Seki G (September 2010). "Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine". Proc. Natl. Acad. Sci. U.S.A. 107 (36): 15963–8. doi:10.1073/pnas.1008705107. PMC 2936614. PMID 20798035.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Zhu Q, Kao L, Azimov R, Newman D, Liu W, Pushkin A, Abuladze N, Kurtz I (April 2010). "Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis". J. Biol. Chem. 285 (18): 13416–26. doi:10.1074/jbc.M109.093286. PMC 2859501. PMID 20197274.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
Further reading
- Romero MF, Boron WF (1999). "Electrogenic Na+/HCO3- cotransporters: cloning and physiology". Annu. Rev. Physiol. 61: 699–723. doi:10.1146/annurev.physiol.61.1.699. PMID 10099707.
- Soleimani M, Burnham CE (2000). "Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes". Kidney Int. 57 (2): 371–84. doi:10.1046/j.1523-1755.2000.00857.x. PMID 10652014.
- Choi I, Romero MF, Khandoudi N; et al. (1999). "Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC)". Am. J. Physiol. 276 (3 Pt 1): C576–84. PMID 10069984.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Igarashi T, Inatomi J, Sekine T; et al. (1999). "Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities". Nat. Genet. 23 (3): 264–6. doi:10.1038/15440. PMID 10545938.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Pushkin A, Yip KP, Clark I; et al. (2000). "NBC3 expression in rabbit collecting duct: colocalization with vacuolar H+-ATPase". Am. J. Physiol. 277 (6 Pt 2): F974–81. PMID 10600945.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Park K, Hurley PT, Roussa E; et al. (2002). "Expression of a sodium bicarbonate cotransporter in human parotid salivary glands". Arch. Oral Biol. 47 (1): 1–9. doi:10.1016/S0003-9969(01)00098-X. PMID 11743927.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Gross E, Hawkins K, Pushkin A; et al. (2002). "Phosphorylation of Ser982 in the sodium bicarbonate cotransporter kNBC1 shifts the HCO3−: Na+ stoichiometry from 3:1 to 2:1 in murine proximal tubule cells". J. Physiol. (Lond.). 537 (Pt 3): 659–65. doi:10.1113/jphysiol.2001.012956. PMC 2278987. PMID 11744745.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Gross E, Pushkin A, Abuladze N; et al. (2003). "Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp986, Asp988 and kNBC1-carbonic anhydrase II binding". J. Physiol. (Lond.). 544 (Pt 3): 679–85. doi:10.1113/jphysiol.2002.029777. PMC 2290621. PMID 12411514.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - 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}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Tatishchev S, Abuladze N, Pushkin A; et al. (2003). "Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation". Biochemistry. 42 (3): 755–65. doi:10.1021/bi026826q. PMID 12534288.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Gross E, Fedotoff O, Pushkin A; et al. (2004). "Phosphorylation-induced modulation of pNBC1 function: distinct roles for the amino- and carboxy-termini". J. Physiol. (Lond.). 549 (Pt 3): 673–82. doi:10.1113/jphysiol.2003.042226. PMC 2342979. PMID 12730338.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Sun XC, Bonanno JA (2003). "Identification and cloning of the Na/HCO(3-) cotransporter (NBC) in human corneal endothelium". Exp. Eye Res. 77 (3): 287–95. doi:10.1016/S0014-4835(03)00150-7. PMID 12907161.
- Yamada H, Yamazaki S, Moriyama N; et al. (2003). "Localization of NBC-1 variants in human kidney and renal cell carcinoma". Biochem. Biophys. Res. Commun. 310 (4): 1213–8. doi:10.1016/j.bbrc.2003.09.147. PMID 14559244.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Alvarez BV, Loiselle FB, Supuran CT; et al. (2003). "Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter". Biochemistry. 42 (42): 12321–9. doi:10.1021/bi0353124. PMID 14567693.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Becker HM, Deitmer JW (2004). "Voltage dependence of H+ buffering mediated by sodium bicarbonate cotransport expressed in Xenopus oocytes". J. Biol. Chem. 279 (27): 28057–62. doi:10.1074/jbc.M402401200. PMID 15123668.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - Pushkin A, Abuladze N, Gross E; et al. (2005). "Molecular mechanism of kNBC1—carbonic anhydrase II interaction in proximal tubule cells". J. Physiol. (Lond.). 559 (Pt 1): 55–65. doi:10.1113/jphysiol.2004.065110. PMC 1665076. PMID 15218065.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
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