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Electrogenic sodium bicarbonate cotransporter 1

From Wikipedia, the free encyclopedia
(Redirected fromSLC4A4)
Protein-coding gene in the species Homo sapiens

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;OMA:SLC4A4 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for SLC4A4
Genomic location for SLC4A4
Band4q13.3Start71,186,757bp[1]
End71,572,087bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for SLC4A4
Genomic location for SLC4A4
Band5|5 E1Start89,034,345bp[2]
End89,387,512bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • jejunal mucosa

  • external globus pallidus

  • mucosa of sigmoid colon

  • pancreatic ductal cell

  • internal globus pallidus

  • kidney tubule

  • body of pancreas

  • dorsal motor nucleus of vagus nerve

  • duodenum

  • bronchial epithelial cell
Top expressed in
  • ciliary body

  • cerebellar vermis

  • deep cerebellar nuclei

  • human kidney

  • lobe of cerebellum

  • globus pallidus

  • dorsal tegmental nucleus

  • right kidney

  • medial vestibular nucleus

  • iris
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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
NM_001359211
NM_001359212

NM_001359213

RefSeq (protein)

NP_001091954
NP_001128214
NP_003750

NP_001129732
NP_001184076
NP_061230
NP_001346140
NP_001346141

NP_001346142

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 amembrane transport protein that in humans is encoded by theSLC4A4gene.[5][6][7]

Function

[edit]

Sodium bicarbonatecotransporters (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 bicarbonateco-transport is involved in bicarbonate secretion/absorption andintracellular 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

[edit]

In the brain, the sodium bicarbonate transporter is predominantly expressed byastrocytes.[8] They may participate in regulation of brainextracellular spacepH.[9] Some mutations in the gene have been associated withfamilial hemiplegic migraine.[10] Other mutations disrupt kidney bicarbonate transport and causeproximal renal tubular acidosis.[11]

Splice variants

[edit]

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

[edit]

The renal SLC4A4 gene product NBCe1-A is specifically expressed in the basolateral membranes of proximal tubule epithelia.

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000080493 –Ensembl, May 2017
  2. ^abcGRCm38: 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".Journal of Biological Chemistry.272 (31):19111–19114.doi:10.1074/jbc.272.31.19111.PMID 9235899.
  6. ^Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, et al. (Aug 1998)."Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter".Journal of Biological Chemistry.273 (28):17689–17695.doi:10.1074/jbc.273.28.17689.PMID 9651366.
  7. ^ab"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, et al. (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, et al. (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, et al. (September 2010)."Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine".Proceedings of the National Academy of Sciences of the United States of America.107 (36):15963–15968.doi:10.1073/pnas.1008705107.PMC 2936614.PMID 20798035.
  11. ^Zhu Q, Kao L, Azimov R, Newman D, Liu W, Pushkin A, et al. (April 2010)."Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis".Journal of Biological Chemistry.285 (18):13416–13426.doi:10.1074/jbc.M109.093286.PMC 2859501.PMID 20197274.

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

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SLCO1–4
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