SLC4A4

SLC4A4
Identifiers
AliasesSLC4A4, HNBC1, KNBC, NBC1, NBC2, NBCe1-A, SLC4A5, hhNMC, pNBC, kNBC1, solute carrier family 4 member 4
External IDsMGI: 1927555 HomoloGene: 55776 GeneCards: SLC4A4
Gene location (Human)
Chr.Chromosome 4 (human)[1]
BandNo data availableStart71,186,757 bp[1]
End71,572,087 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8671

54403

Ensembl

ENSG00000080493

ENSMUSG00000060961

UniProt

Q9Y6R1

O88343

RefSeq (mRNA)

NM_001098484
NM_001134742
NM_003759

NM_001136260
NM_001197147
NM_018760

RefSeq (protein)

NP_001091954
NP_001128214
NP_003750

NP_001129732
NP_001184076
NP_061230

Location (UCSC)Chr 4: 71.19 – 71.57 MbChr 4: 88.89 – 89.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Electrogenic sodium bicarbonate cotransporter 1 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 cotransport 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

NBCe1 may participate in regulation of brain extracellular space pH. Some mutations in NBCe1 have been associated with Familial hemiplegic migraine.[8] Other NBCe1 mutations disrupt kidney bicarbonate transport and cause proximal renal tubular acidosis.[9]

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000080493 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000060961 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. PMID 9235899. doi:10.1074/jbc.272.31.19111.
  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. PMID 9651366. doi:10.1074/jbc.273.28.17689.
  7. 1 2 "Entrez Gene: SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4".
  8. ↑ 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. PMC 2936614 Freely accessible. PMID 20798035. doi:10.1073/pnas.1008705107.
  9. ↑ 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. PMC 2859501 Freely accessible. PMID 20197274. doi:10.1074/jbc.M109.093286.

Further reading

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


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