Electrogenic sodium bicarbonate cotransporter 4: Difference between revisions

SLC4A5
Identifiers
Aliases	SLC4A5, NBC4, NBCe2, solute carrier family 4 member 5
External IDs	OMIM: 606757; MGI: 2443220; HomoloGene: 31125; GeneCards: SLC4A5; OMA:SLC4A5 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	74,343,416 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	83,281,927 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; thyroid gland; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; corpus callosum; ; cerebellar hemisphere; ; Achilles tendon; ; pituitary gland; ; right uterine tube; ; gastric mucosa;
	Top expressed in
	retinal pigment epithelium; ; ciliary body; ; iris; ; secondary oocyte; ; right lung; ; right lung lobe; ; trachea; ; left lung; ; left lung lobe; ; lens;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	inorganic anion exchanger activity; anion transmembrane transporter activity; sodium:bicarbonate symporter activity;
Cellular component	integral component of membrane; membrane; plasma membrane; apical plasma membrane; integral component of plasma membrane;
Biological process	epithelial cell development; renal system process; sodium ion transport; anion transport; retina development in camera-type eye; mitochondrion distribution; regulation of systemic arterial blood pressure; regulation of gene expression; cerebrospinal fluid secretion; ion transport; inorganic anion transport; regulation of intracellular pH; bicarbonate transport; anion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	57835
	232156
	ENSG00000188687
	ENSMUSG00000068323
	Q9BY07
	n/a
	NM_133479; NM_021196; NM_033323; NM_133478; NM_001386136
	NM_001166067
	NP_067019; NP_597812
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 20:34, 13 April 2020

Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.^[5]^[6]^[7]

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.^[7]

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.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188687 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000068323 – 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.
^ 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.
^ ^a ^b "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.

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.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188687 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000068323 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10978526-5] 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.

[pmid11087115-6] 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.

[entrez-7] "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5".

[pmid22082831-8] 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.

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@@ Line 8: / Line 8: @@
 == 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>
+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 | doi-access = free }}</ref>
 == See also ==
@@ Line 19: / Line 19: @@
 {{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 | 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 | doi-access = free }}
 * {{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 | 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 }}

Revision as of 20:34, 13 April 2020

Function

Clinical significance

See also

References

Further reading