SLC4A5: Difference between revisions
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{{ | '''Electrogenic sodium bicarbonate cotransporter 4''' is a [[protein]] that in humans is encoded by the ''SLC4A5'' [[gene]].<ref name="pmid10978526">{{cite journal | vauthors = Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I | title = Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family | journal = Biochim Biophys Acta | volume = 1493 | issue = 1–2 | pages = 215–8 | date = Nov 2000 | pmid = 10978526 | pmc = | doi = 10.1016/S0167-4781(00)00149-4 }}</ref><ref name="pmid11087115">{{cite journal | vauthors = Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I | title = Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization | journal = IUBMB Life | volume = 50 | issue = 1 | pages = 13–9 | date = Mar 2001 | pmid = 11087115 | pmc = | doi = 10.1080/15216540050176539 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57835| accessdate = }}</ref> | ||
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== Function == | |||
This gene encodes a member of the sodium bicarbonate [[cotransporter]] (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in [[intracellular pH]] regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined.<ref name="entrez"/> | |||
== Clinical significance == | |||
This human gene has been identified as a [[hypertension]] susceptibility gene based on the association of single nucleotide polymorphisms with blood pressure (BP) levels and hypertension status.<ref name="pmid22082831">{{cite journal | vauthors = Gröger N, Vitzthum H, Fröhlich H, Krüger M, Ehmke H, Braun T, Boettger T | title = Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis | journal = Hum. Mol. Genet. | volume = 21 | issue = 5 | pages = 1025–36 | date = March 2012 | pmid = 22082831 | doi = 10.1093/hmg/ddr533 }}</ref> | |||
==See also== | == See also == | ||
* {{MeshName|SLC4A5+protein,+human}} | * {{MeshName|SLC4A5+protein,+human}} | ||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Soleimani M, Burnham CE | title = Na+:HCO(3-) cotransporters (NBC): cloning and characterization | journal = J. Membr. Biol. | volume = 183 | issue = 2 | pages = 71–84 | year = 2002 | pmid = 11562789 | doi = 10.1007/s00232-001-0055-8 }} | |||
* {{cite journal | vauthors = Hunt SC, Xin Y, Wu LL, Cawthon RM, Coon H, Hasstedt SJ, Hopkins PN | title = Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures | journal = Hypertension | volume = 47 | issue = 3 | pages = 532–6 | year = 2006 | pmid = 16365189 | doi = 10.1161/01.HYP.0000196949.26088.3c }} | |||
*{{cite journal | * {{cite journal | vauthors = Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M | title = Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant | journal = Am. J. Physiol. Renal Physiol. | volume = 284 | issue = 1 | pages = F41–50 | year = 2003 | pmid = 12388414 | doi = 10.1152/ajprenal.00055.2002 }} | ||
*{{cite journal | * {{cite journal | vauthors = Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I | title = Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued) | journal = Cytogenet. Cell Genet. | volume = 95 | issue = 3–4 | pages = 163–8 | year = 2002 | pmid = 12063394 | doi = 10.1159/000059340 }} | ||
*{{cite journal | * {{cite journal | vauthors = Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I | title = Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter | journal = Am. J. Physiol., Cell Physiol. | volume = 282 | issue = 2 | pages = C408–16 | year = 2002 | pmid = 11788353 | doi = 10.1152/ajpcell.00409.2001 }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{NLM content}} | |||
{{Solute carrier family|bg|bg0}} | |||
[[Category:Solute carrier family]] | [[Category:Solute carrier family]] | ||
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Latest revision as of 06:35, 27 October 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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Location (UCSC) | n/a | n/a | |||||
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Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.[1][2][3]
Function
This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined.[3]
Clinical significance
This human gene has been identified as a hypertension susceptibility gene based on the association of single nucleotide polymorphisms with blood pressure (BP) levels and hypertension status.[4]
See also
- SLC4A5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
References
- ↑ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Nov 2000). "Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family". Biochim Biophys Acta. 1493 (1–2): 215–8. doi:10.1016/S0167-4781(00)00149-4. PMID 10978526.
- ↑ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Mar 2001). "Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization". IUBMB Life. 50 (1): 13–9. doi:10.1080/15216540050176539. PMID 11087115.
- ↑ 3.0 3.1 "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5".
- ↑ Gröger N, Vitzthum H, Fröhlich H, Krüger M, Ehmke H, Braun T, Boettger T (March 2012). "Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis". Hum. Mol. Genet. 21 (5): 1025–36. doi:10.1093/hmg/ddr533. PMID 22082831.
Further reading
- Soleimani M, Burnham CE (2002). "Na+:HCO(3-) cotransporters (NBC): cloning and characterization". J. Membr. Biol. 183 (2): 71–84. doi:10.1007/s00232-001-0055-8. PMID 11562789.
- Hunt SC, Xin Y, Wu LL, Cawthon RM, Coon H, Hasstedt SJ, Hopkins PN (2006). "Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures". Hypertension. 47 (3): 532–6. doi:10.1161/01.HYP.0000196949.26088.3c. PMID 16365189.
- Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M (2003). "Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant". Am. J. Physiol. Renal Physiol. 284 (1): F41–50. doi:10.1152/ajprenal.00055.2002. PMID 12388414.
- Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I (2002). "Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued)". Cytogenet. Cell Genet. 95 (3–4): 163–8. doi:10.1159/000059340. PMID 12063394.
- Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I (2002). "Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter". Am. J. Physiol., Cell Physiol. 282 (2): C408–16. doi:10.1152/ajpcell.00409.2001. PMID 11788353.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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