Electrogenic sodium bicarbonate cotransporter 4

Last updated
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)
Ideogram human chromosome 2.svg
Chr. Chromosome 2 (human) [1]
Human chromosome 2 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 2p13.1Start74,216,242 bp [1]
End74,343,414 bp [1]
RNA expression pattern
PBB GE SLC4A5 221723 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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

Contents

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

Related Research Articles

Cotransporter

Cotransporters are a subcategory of membrane transport proteins (transporters) that couple the favorable movement of one molecule with its concentration gradient and unfavorable movement of another molecule against its concentration gradient. They enable cotransport and include antiporters and symporters. In general, cotransporters consist of two out of the three classes of integral membrane proteins known as transporters that move molecules and ions across biomembranes. Uniporters are also transporters but move only one type of molecule down its concentration gradient and are not classified as cotransporters.

Sodium-chloride symporter

The sodium-chloride symporter (also known as Na+-Cl cotransporter, NCC or NCCT, or as the thiazide-sensitive Na+-Cl cotransporter or TSC) is a cotransporter in the kidney which has the function of reabsorbing sodium and chloride ions from the tubular fluid into the cells of the distal convoluted tubule of the nephron. It is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporters. In humans, it is encoded by the gene SLC12A3 (solute carrier family 12 member 3) located in 16q13.

Sodium/glucose cotransporter 1

Sodium/glucose cotransporter 1 (SGLT1) also known as solute carrier family 5 member 1 is a protein in humans that is encoded by the SLC5A1 gene which encodes the production of the SGLT1 protein to line the absorptive cells in the small intestine and the epithelial cells of the kidney tubules of the nephron for the purpose of glucose uptake into cells. Through the use of the sodium glucose cotransporter 1 protein, cells are able to obtain glucose which is further utilized to make and store energy for the cell.

Sodium–hydrogen antiporter 3

Sodium–hydrogen antiporter 3 also known as sodium–hydrogen exchanger 3 (NHE3) or solute carrier family 9 member 3 (SLC9A3) is a protein that in humans is encoded by the SLC9A3 gene.

Sodium bicarbonate cotransporter 3

Sodium bicarbonate cotransporter 3 is a protein which in humans is encoded by the SLC4A7 gene.

Electrogenic sodium bicarbonate cotransporter 1

Electrogenic sodium bicarbonate cotransporter 1 (NBCe1) is a membrane transport protein that in humans is encoded by the 'SLC4A4' gene.

Anion exchange protein 2

Anion exchange protein 2 (AE2) is a membrane transport protein that in humans is encoded by the SLC4A2 gene. AE2 is functionally similar to the Band 3 Cl/HCO3 exchange protein.

Concentrative nucleoside transporter 2

Concentrative nucleoside transporter 2 (CNT2) is a protein that in humans is encoded by the SLC28A2 gene.

Proton-coupled amino acid transporter 1

Proton-coupled amino acid transporter 1 is a protein that in humans is encoded by the SLC36A1 gene.

Anion exchange protein 3

Anion exchange protein 3 is a membrane transport protein that in humans is encoded by the SLC4A3 gene. AE3 is functionally similar to the Band 3 Cl/HCO3 exchange protein but it is expressed primarily in brain neurons and in the heart. Like AE2 its activity is sensitive to pH. AE3 mutations have been linked to seizures.

Sodium–hydrogen antiporter 2

Sodium–hydrogen exchanger 2 is a protein that in humans is encoded by the SLC9A2 gene.

SLC26A6

Solute carrier family 26 member 6 is a protein that in humans is encoded by the SLC26A6 gene. It is an anion-exchanger expressed in the apical membrane of the kidney proximal tubule, the apical membranes of the duct cells in the pancreas, and the villi of the duodenum.

Electroneutral sodium bicarbonate exchanger 1

Electroneutral sodium bicarbonate exchanger 1 is a protein that in humans is encoded by the SLC4A8 gene.

SLC12A6

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.

Sodium-dependent phosphate transport protein 2B

Sodium-dependent phosphate transport protein 2B (NaPi2b) is a protein that in humans is encoded by the SLC34A2 gene.

Sodium/myo-inositol cotransporter

Sodium/myo-inositol cotransporter is a protein that in humans is encoded by the SLC5A3 gene.

Anion exchange transporter

Anion exchange transporter is a protein that in humans is encoded by the SLC26A7 gene.

Sodium-dependent phosphate transport protein 1

Sodium-dependent phosphate transport protein 1 is a protein that in humans is encoded by the SLC17A1 gene.

SLC13A3

Solute carrier family 13 member 3 also called sodium-dependent dicarboxylate transporter (NaDC3) is a protein that in humans is encoded by the SLC13A3 gene.

The anion exchanger family is a member of the large APC superfamily of secondary carriers. Members of the AE family are generally responsible for the transport of anions across cellular barriers, although their functions may vary. All of them exchange bicarbonate. Characterized protein members of the AE family are found in plants, animals, insects and yeast. Uncharacterized AE homologues may be present in bacteria. Animal AE proteins consist of homodimeric complexes of integral membrane proteins that vary in size from about 900 amino acyl residues to about 1250 residues. Their N-terminal hydrophilic domains may interact with cytoskeletal proteins and therefore play a cell structural role. Some of the currently characterized members of the AE family can be found in the Transporter Classification Database.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000188687 - Ensembl, May 2017
  2. 1 2 3 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. S2CID   43332428.
  7. 1 2 "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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.