Electrogenic sodium bicarbonate cotransporter 1

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SLC4A4
Identifiers
AliasesSLC4A4, HNBC1, KNBC, NBC1, NBC2, NBCe1-A, SLC4A5, hhNMC, pNBC, kNBC1, solute carrier family 4 member 4
External IDsOMIM: 603345 MGI: 1927555 HomoloGene: 55776 GeneCards: SLC4A4
Orthologs
SpeciesHumanMouse
Entrez

8671

54403

Ensembl

ENSG00000080493

ENSMUSG00000060961

UniProt

Q9Y6R1

O88343

RefSeq (mRNA)

NM_001098484
NM_001134742
NM_003759

RefSeq (protein)

NP_001091954
NP_001128214
NP_003750

Location (UCSC)Chr 4: 71.19 – 71.57 MbChr 5: 89.03 – 89.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Splice variants

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000080493 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060961 – 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. ^ Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M (Aug 1997). "Cloning and functional expression of a human kidney Na+:HCO3- cotransporter". J Biol Chem. 272 (31): 19111–4. doi:10.1074/jbc.272.31.19111. PMID 9235899.
  6. ^ Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, Kurtz I (Aug 1998). "Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter". J Biol Chem. 273 (28): 17689–95. doi:10.1074/jbc.273.28.17689. PMID 9651366.
  7. ^ a b "Entrez Gene: SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4".
  8. ^ Theparambil SM, Hosford PS, Ruminot I, Kopach O, Reynolds JR, Sandoval PY, Rusakov DA, Barros LF, Gourine AV (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.
  9. ^ Theparambil SM, Hosford PS, Ruminot I, Kopach O, Reynolds JR, Sandoval PY, Rusakov DA, Barros LF, Gourine AV (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.
  10. ^ Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, De Jonghe P, Li Y, Sekine T, Igarashi T, Fujimoto I, Mikoshiba K, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita T, Seki G (September 2010). "Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine". Proc. Natl. Acad. Sci. U.S.A. 107 (36): 15963–8. doi:10.1073/pnas.1008705107. PMC 2936614. PMID 20798035.
  11. ^ Zhu Q, Kao L, Azimov R, Newman D, Liu W, Pushkin A, Abuladze N, Kurtz I (April 2010). "Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis". J. Biol. Chem. 285 (18): 13416–26. doi:10.1074/jbc.M109.093286. PMC 2859501. PMID 20197274.

Further reading

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


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