Electrogenic sodium bicarbonate cotransporter 1
| SLC4A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC4A4, HNBC1, KNBC, NBC1, NBC2, NBCe1-A, SLC4A5, hhNMC, pNBC, kNBC1, solute carrier family 4 member 4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603345; MGI: 1927555; HomoloGene: 55776; GeneCards: SLC4A4; OMA:SLC4A4 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Electrogenic sodium bicarbonate cotransporter 1, sodium bicarbonate cotransporter is a membrane transport protein that in humans is encoded by the SLC4A4 gene.[5][6][7]
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 co-transport 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][7]
Clinical significance
In the brain, the sodium bicarbonate transporter is predominantly expressed by astrocytes.[8] They may participate in regulation of brain extracellular space pH.[9] Some mutations in the gene have been associated with familial hemiplegic migraine.[10] Other mutations disrupt kidney bicarbonate transport and cause proximal renal tubular acidosis.[11]
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000080493 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060961 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M (Aug 1997). "Cloning and functional expression of a human kidney Na+:HCO3- cotransporter". Journal of Biological Chemistry. 272 (31): 19111–19114. doi:10.1074/jbc.272.31.19111. PMID 9235899.
- ^ Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, et al. (Aug 1998). "Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter". Journal of Biological Chemistry. 273 (28): 17689–17695. doi:10.1074/jbc.273.28.17689. PMID 9651366.
- ^ a b "Entrez Gene: SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4".
- ^ Theparambil SM, Hosford PS, Ruminot I, Kopach O, Reynolds JR, Sandoval PY, et al. (2020-10-08). "Astrocytes regulate brain extracellular pH via a neuronal activity-dependent bicarbonate shuttle". Nature Communications. 11 (1): 5073. Bibcode:2020NatCo..11.5073T. doi:10.1038/s41467-020-18756-3. ISSN 2041-1723. PMC 7545092. PMID 33033238.
- ^ Theparambil SM, Hosford PS, Ruminot I, Kopach O, Reynolds JR, Sandoval PY, et al. (2020-10-08). "Astrocytes regulate brain extracellular pH via a neuronal activity-dependent bicarbonate shuttle". Nature Communications. 11 (1): 5073. Bibcode:2020NatCo..11.5073T. doi:10.1038/s41467-020-18756-3. ISSN 2041-1723. PMC 7545092. PMID 33033238.
- ^ Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, et al. (September 2010). "Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine". Proceedings of the National Academy of Sciences of the United States of America. 107 (36): 15963–15968. doi:10.1073/pnas.1008705107. PMC 2936614. PMID 20798035.
- ^ Zhu Q, Kao L, Azimov R, Newman D, Liu W, Pushkin A, et al. (April 2010). "Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis". Journal of Biological Chemistry. 285 (18): 13416–13426. doi:10.1074/jbc.M109.093286. PMC 2859501. PMID 20197274.
Further reading
- Romero MF, Boron WF (1999). "Electrogenic Na+/HCO3- cotransporters: cloning and physiology". Annual Review of Physiology. 61: 699–723. doi:10.1146/annurev.physiol.61.1.699. PMID 10099707.
- Soleimani M, Burnham CE (Feb 2000). "Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes". Kidney International. 57 (2): 371–384. doi:10.1046/j.1523-1755.2000.00857.x. PMID 10652014.
- Choi I, Romero MF, Khandoudi N, Bril A, Boron WF (Mar 1999). "Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC)". The American Journal of Physiology. 276 (3): C576 – C584. doi:10.1152/ajpcell.1999.276.3.C576. PMID 10069984. S2CID 23345395.
- Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, et al. (Nov 1999). "Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities". Nature Genetics. 23 (3): 264–266. doi:10.1038/15440. PMID 10545938. S2CID 547845.
- Pushkin A, Yip KP, Clark I, Abuladze N, Kwon TH, Tsuruoka S, et al. (Dec 1999). "NBC3 expression in rabbit collecting duct: colocalization with vacuolar H+-ATPase". The American Journal of Physiology. 277 (6): F974 – F981. doi:10.1152/ajprenal.1999.277.6.F974. PMID 10600945. S2CID 4457223.
- Park K, Hurley PT, Roussa E, Cooper GJ, Smith CP, Thevenod F, et al. (Jan 2002). "Expression of a sodium bicarbonate cotransporter in human parotid salivary glands". Archives of Oral Biology. 47 (1): 1–9. doi:10.1016/S0003-9969(01)00098-X. PMID 11743927.
- Gross E, Hawkins K, Pushkin A, et al. (Dec 2001). "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". The Journal of Physiology. 537 (Pt 3): 659–665. doi:10.1113/jphysiol.2001.012956. PMC 2278987. PMID 11744745.
- Gross E, Pushkin A, Abuladze N, Fedotoff O, Kurtz I (Nov 2002). "Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp986, Asp988 and kNBC1-carbonic anhydrase II binding". The Journal of Physiology. 544 (3): 679–685. doi:10.1113/jphysiol.2002.029777. PMC 2290621. PMID 12411514.
- Tatishchev S, Abuladze N, Pushkin A, Newman D, Liu W, Weeks D, et al. (Jan 2003). "Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation". Biochemistry. 42 (3): 755–765. doi:10.1021/bi026826q. PMID 12534288.
- Gross E, Fedotoff O, Pushkin A, Abuladze N, Newman D, Kurtz I (Jun 2003). "Phosphorylation-induced modulation of pNBC1 function: distinct roles for the amino- and carboxy-termini". The Journal of Physiology. 549 (Pt 3): 673–682. doi:10.1113/jphysiol.2003.042226. PMC 2342979. PMID 12730338.
- Sun XC, Bonanno JA (Sep 2003). "Identification and cloning of the Na/HCO(3-) cotransporter (NBC) in human corneal endothelium". Experimental Eye Research. 77 (3): 287–295. doi:10.1016/S0014-4835(03)00150-7. PMC 4106483. PMID 12907161.
- Yamada H, Yamazaki S, Moriyama N, Hara C, Horita S, Enomoto Y, et al. (Oct 2003). "Localization of NBC-1 variants in human kidney and renal cell carcinoma". Biochemical and Biophysical Research Communications. 310 (4): 1213–1218. doi:10.1016/j.bbrc.2003.09.147. PMID 14559244.
- Alvarez BV, Loiselle FB, Supuran CT, Schwartz GJ, Casey JR (Oct 2003). "Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter". Biochemistry. 42 (42): 12321–12329. doi:10.1021/bi0353124. PMID 14567693.
- Becker HM, Deitmer JW (Jul 2004). "Voltage dependence of H+ buffering mediated by sodium bicarbonate cotransport expressed in Xenopus oocytes". Journal of Biological Chemistry. 279 (27): 28057–28062. doi:10.1074/jbc.M402401200. PMID 15123668.
- Pushkin A, Abuladze N, Gross E, Newman D, Tatishchev S, Lee I, et al. (Aug 2004). "Molecular mechanism of kNBC1—carbonic anhydrase II interaction in proximal tubule cells". The Journal of Physiology. 559 (Pt 1): 55–65. doi:10.1113/jphysiol.2004.065110. PMC 1665076. PMID 15218065.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.