Electrogenic sodium bicarbonate cotransporter 4

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

SLC4A5
Identifiers
Aliases	SLC4A5, NBC4, NBCe2, solute carrier family 4 member 5
External IDs	OMIM: 606757 MGI: 2443220 HomoloGene: 31125 GeneCards: SLC4A5
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.1 Start 74,216,242 bp[1] End 74,343,414 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 C3 Start 83,219,828 bp[2] End 83,304,945 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • anion:anion antiporter activity • inorganic anion exchanger activity • anion transmembrane transporter activity • sodium:bicarbonate symporter activity Cellular component • integral component of membrane • membrane • cell 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
Species	Human	Mouse
Entrez	57835	232156
Ensembl	ENSG00000188687	ENSMUSG00000068323
UniProt	Q9BY07	n/a
RefSeq (mRNA)	NM_133479 NM_021196 NM_033323 NM_133478	NM_001166067
RefSeq (protein)	NP_067019 NP_597812	n/a
Location (UCSC)	Chr 2: 74.22 – 74.34 Mb	Chr 6: 83.22 – 83.3 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

See also

• SLC4A5+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

References

1. GRCh38: Ensembl release 89: ENSG00000188687 - Ensembl, May 2017
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.
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.
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.
7. "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5".
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.

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.