| 释义 |
- Function
- Clinical significance
- Splice variants
- Distribution
- See also
- References
- Further reading
{{Infobox_gene}}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 variantsNBCe1-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 1. ^{{cite journal | vauthors = 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 }}
2. ^{{cite journal | vauthors = 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 }}
3. ^1 {{cite web | title = Entrez Gene: SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8671| accessdate = }}
4. ^{{cite journal | vauthors = 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 }}
5. ^{{cite journal | vauthors = 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 }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Romero MF, Boron WF |title=Electrogenic Na+/HCO3- cotransporters: cloning and physiology. |journal=Annu. Rev. Physiol. |volume=61 |issue= |pages= 699–723 |year= 1999 |pmid= 10099707 |doi= 10.1146/annurev.physiol.61.1.699 }}
- {{cite journal | vauthors=Soleimani M, Burnham CE |title=Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes. |journal=Kidney Int. |volume=57 |issue= 2 |pages= 371–84 |year= 2000 |pmid= 10652014 |doi= 10.1046/j.1523-1755.2000.00857.x }}
- {{cite journal |vauthors=Choi I, Romero MF, Khandoudi N, etal |title=Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC). |journal=Am. J. Physiol. |volume=276 |issue= 3 Pt 1 |pages= C576–84 |year= 1999 |pmid= 10069984 |doi= }}
- {{cite journal |vauthors=Igarashi T, Inatomi J, Sekine T, etal |title=Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. |journal=Nat. Genet. |volume=23 |issue= 3 |pages= 264–6 |year= 1999 |pmid= 10545938 |doi= 10.1038/15440 }}
- {{cite journal |vauthors=Pushkin A, Yip KP, Clark I, etal |title=NBC3 expression in rabbit collecting duct: colocalization with vacuolar H+-ATPase. |journal=Am. J. Physiol. |volume=277 |issue= 6 Pt 2 |pages= F974–81 |year= 2000 |pmid= 10600945 |doi= 10.1152/ajprenal.1999.277.6.F974}}
- {{cite journal |vauthors=Park K, Hurley PT, Roussa E, etal |title=Expression of a sodium bicarbonate cotransporter in human parotid salivary glands. |journal=Arch. Oral Biol. |volume=47 |issue= 1 |pages= 1–9 |year= 2002 |pmid= 11743927 |doi=10.1016/S0003-9969(01)00098-X }}
- {{cite journal |vauthors=Gross E, Hawkins K, Pushkin A, etal |title=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 |journal=J. Physiol. |volume=537 |issue= Pt 3 |pages= 659–65 |year= 2002 |pmid= 11744745 |doi=10.1113/jphysiol.2001.012956 | pmc=2278987 }}
- {{cite journal |vauthors=Gross E, Pushkin A, Abuladze N, etal |title=Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp986, Asp988 and kNBC1-carbonic anhydrase II binding |journal=J. Physiol. |volume=544 |issue= Pt 3 |pages= 679–85 |year= 2003 |pmid= 12411514 |doi=10.1113/jphysiol.2002.029777 | pmc=2290621 }}
- {{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 |vauthors=Tatishchev S, Abuladze N, Pushkin A, etal |title=Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation |journal=Biochemistry |volume=42 |issue= 3 |pages= 755–65 |year= 2003 |pmid= 12534288 |doi= 10.1021/bi026826q }}
- {{cite journal |vauthors=Gross E, Fedotoff O, Pushkin A, etal |title=Phosphorylation-induced modulation of pNBC1 function: distinct roles for the amino- and carboxy-termini |journal=J. Physiol. |volume=549 |issue= Pt 3 |pages= 673–82 |year= 2004 |pmid= 12730338 |doi= 10.1113/jphysiol.2003.042226 | pmc=2342979 }}
- {{cite journal | vauthors=Sun XC, Bonanno JA |title=Identification and cloning of the Na/HCO(3-) cotransporter (NBC) in human corneal endothelium |journal=Exp. Eye Res. |volume=77 |issue= 3 |pages= 287–95 |year= 2003 |pmid= 12907161 |pmc=4106483 |doi=10.1016/S0014-4835(03)00150-7 }}
- {{cite journal |vauthors=Yamada H, Yamazaki S, Moriyama N, etal |title=Localization of NBC-1 variants in human kidney and renal cell carcinoma |journal=Biochem. Biophys. Res. Commun. |volume=310 |issue= 4 |pages= 1213–8 |year= 2003 |pmid= 14559244 |doi=10.1016/j.bbrc.2003.09.147 }}
- {{cite journal |vauthors=Alvarez BV, Loiselle FB, Supuran CT, etal |title=Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter |journal=Biochemistry |volume=42 |issue= 42 |pages= 12321–9 |year= 2003 |pmid= 14567693 |doi= 10.1021/bi0353124 }}
- {{cite journal | vauthors=Becker HM, Deitmer JW |title=Voltage dependence of H+ buffering mediated by sodium bicarbonate cotransport expressed in Xenopus oocytes |journal=J. Biol. Chem. |volume=279 |issue= 27 |pages= 28057–62 |year= 2004 |pmid= 15123668 |doi= 10.1074/jbc.M402401200 }}
- {{cite journal |vauthors=Pushkin A, Abuladze N, Gross E, etal |title=Molecular mechanism of kNBC1—carbonic anhydrase II interaction in proximal tubule cells |journal=J. Physiol. |volume=559 |issue= Pt 1 |pages= 55–65 |year= 2005 |pmid= 15218065 |doi= 10.1113/jphysiol.2004.065110 | pmc=1665076 }}
{{refend}}{{NLM content}}{{Solute carrier family|bg|bg0}}{{membrane-protein-stub}} 1 : Solute carrier family |