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Anion exchange protein 3

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Protein-coding gene in the species Homo sapiens
SLC4A3
Identifiers
AliasesSLC4A3, AE3, SLC2C, CAE3/BAE3, solute carrier family 4 member 3
External IDsOMIM: 106195; MGI: 109350; HomoloGene: 129474; GeneCards: SLC4A3; OMA:SLC4A3 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for SLC4A3Genomic location for SLC4A3
Band2q35Start219,627,394 bp
End219,641,980 bp
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)
Chromosome 1 (mouse)Genomic location for SLC4A3Genomic location for SLC4A3
Band1 C4|1 39.16 cMStart75,522,910 bp
End75,538,816 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • apex of heart

  • right auricle

  • left ventricle

  • left ovary

  • right ovary

  • myocardium of left ventricle

  • right ventricle

  • nucleus accumbens

  • cardiac muscle tissue of right atrium

  • lateral nuclear group of thalamus
Top expressed in
  • perirhinal cortex

  • entorhinal cortex

  • interventricular septum

  • right ventricle

  • myocardium of ventricle

  • cardiac muscles

  • central gray substance of midbrain

  • CA3 field

  • pontine nuclei

  • cingulate gyrus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6508

20536

Ensembl

ENSG00000114923

ENSMUSG00000006576

UniProt

P48751

P16283

RefSeq (mRNA)

NM_005070
NM_201574
NM_001326559

NM_009208
NM_001357149
NM_001357150

RefSeq (protein)

NP_001313488
NP_005061
NP_963868

NP_033234
NP_001344078
NP_001344079

Location (UCSC)Chr 2: 219.63 – 219.64 MbChr 1: 75.52 – 75.54 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Biological Functions

Anion exchange protein 3 (AE3) 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.

SLC4A3 gene mutations have been associated with of Short QT syndrome (SQTS) and recent observations suggest that they are probably the most frequent cause of this disease

Structural features

The cryo-EM studies on the structures of human AE3 revealed that it forms a homodimer, similar to AE1 and AE2. AE3 is stabilized in an outward-facing conformation as its resting state, in contrast to AE2, which rests in an inward-facing conformation. This outward-facing conformation makes AE3 more vulnerable to the pan-inhibitor of anion transporters, DIDS (4,4-diisothiocyanatostilbene-2,2'-disulfonic acid). In addition to the transmembrane domain (TMD) resolved by cryo-EM, the soluble N-terminal domain (NTD) of AE3 has also been solved in a chimera consisting of the AE3 NTD and AE2 TMD.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000114923Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000006576Ensembl, 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. Su YR, Klanke CA, Houseal TW, Linn SC, Burk SE, Varvil TS, Otterud BE, Shull GE, Leppert MF, Menon AG (Jan 1995). "Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36". Genomics. 22 (3): 605–9. doi:10.1006/geno.1994.1433. PMID 8001971.
  6. "Entrez Gene: SLC4A3 solute carrier family 4, anion exchanger, member 3".
  7. Casey JR, Sly WS, Shah GN, Alvarez BV (November 2009). "Bicarbonate homeostasis in excitable tissues: role of AE3 Cl-/HCO3- exchanger and carbonic anhydrase XIV interaction". Am. J. Physiol., Cell Physiol. 297 (5): C1091–102. doi:10.1152/ajpcell.00177.2009. PMC 2777400. PMID 19692653.
  8. Hayashi H, Suruga K, Yamashita Y (June 2009). "Regulation of intestinal Cl-/HCO3- exchanger SLC26A3 by intracellular pH". Am. J. Physiol., Cell Physiol. 296 (6): C1279–90. doi:10.1152/ajpcell.00638.2008. PMID 19321737.
  9. Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch TJ, Gal A, Hübner CA (January 2006). "Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold". Mol. Cell. Biol. 26 (1): 182–91. doi:10.1128/MCB.26.1.182-191.2006. PMC 1317631. PMID 16354689.
  10. Vilas GL, Johnson DE, Freund P, Casey JR (September 2009). "Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3". Am. J. Physiol., Cell Physiol. 297 (3): C526–36. doi:10.1152/ajpcell.00572.2008. PMID 19605733. S2CID 29802528.
  11. Thorsen, Kasper; Dam, Vibeke S.; Kjaer-Sorensen, Kasper; Pedersen, Lisbeth N.; Skeberdis, V. Arvydas; Jurevičius, Jonas; Treinys, Rimantas; Petersen, Ida M. B. S.; Nielsen, Morten S.; Oxvig, Claus; Morth, J. Preben; Matchkov, Vladimir V.; Aalkjær, Christian; Bundgaard, Henning; Jensen, Henrik K. (2017-11-22). "Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome". Nature Communications. 8 (1): 1696. doi:10.1038/s41467-017-01630-0. ISSN 2041-1723. PMC 5700076. PMID 29167417.
  12. Christiansen, Morten Krogh; Kjær-Sørensen, Kasper; Clavsen, Natacha C.; Dittmann, Sven; Jensen, Maja Fuhlendorff; Guldbrandsen, Halvor Østerby; Pedersen, Lisbeth Nørum; Sørensen, Rikke Hasle; Lildballe, Dorte Launholt; Müller, Klara; Müller, Patrick; Vogel, Kira; Rudic, Boris; Borggrefe, Martin; Oxvig, Claus (August 2023). "Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome". Heart Rhythm. 20 (8): 1136–1143. doi:10.1016/j.hrthm.2023.02.010. ISSN 1556-3871. PMID 36806574.
  13. Jian, Liyan; Zhang, Qing; Yao, Deqiang; Wang, Qian; Chen, Moxin; Xia, Ying; Li, Shaobai; Shen, Yafeng; Cao, Mi; Qin, An; Li, Lin; Cao, Yu (2024-07-20). "The structural insight into the functional modulation of human anion exchanger 3". Nature Communications. 15 (1): 6134. doi:10.1038/s41467-024-50572-x. ISSN 2041-1723. PMC 11271275. PMID 39033175.
  14. Zhang, Qing; Jian, Liyan; Yao, Deqiang; Rao, Bing; Xia, Ying; Hu, Kexin; Li, Shaobai; Shen, Yafeng; Cao, Mi; Qin, An; Zhao, Jie; Cao, Yu (2023-03-31). "The structural basis of the pH-homeostasis mediated by the Cl−/HCO3− exchanger, AE2". Nature Communications. 14 (1): 1812. doi:10.1038/s41467-023-37557-y. ISSN 2041-1723. PMC 10066210. PMID 37002221.

Further reading

Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)
By group
SLC1–10
(1):
(2):
(3):
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SLC11–20
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SLC21–30
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SLC31–40
(31):
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SLC41–48
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SLCO1–4
Ion pumps
Symporter, Cotransporter
Antiporter (exchanger)
see also solute carrier disorders


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