Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)

Stable Identifier
R-HSA-5656248
Type
Reaction [transition]
Species
Homo sapiens
Compartment
plasma membrane, cytosol, extracellular region
ReviewStatus
5/5
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Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)
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The proteins responsible for the exchange of Cl- with HCO3- are members of the SLC4 (1-3) and SLC26 (3, 4, 6, 7 and 9) transporter families. SLC4A1 (Band 3, AE1, anion exchanger 1) was the first bicarbonate transporter gene to be cloned and sequenced. It is ubiquitous throughout vertebrates and in humans, is the major glycoprotein present on erythrocytes and the basolateral surfaces of kidney cells. Variations in erythroid SLC4A1 determine the Diego blood group system. Mutations in the erythrocyte form of SLC4A1 can cause hereditary spherocytosis type 4 (SPH4; MIM:612653), a disorder leading to haemolytic anaemia (HA). Mutations include V488M and E90K (Ribiero et al. 2000, Bracher et al. 2001).
Some mutations in SLC4A1 can cause distal (type1) renal tubular acidosis (dRTA; MIM:179800) (an inability to acidify urine) and include R589H, R589C and S613F (Bruce et al. 1997). Mutations causing dRTA-HA (MIM:611590) include G701D and V850del (Bruce et al. 2000).
Literature References
PubMed ID Title Journal Year
10942416 Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Ribeiro, ML, Alloisio, N, Almeida, H, Gomes, C, Texier, P, Lemos, C, Mimoso, G, Morlé, L, Bey-Cabet, F, Rudigoz, RC, Delaunay, J, Tamagnini, G

Blood 2000
9312167 Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

Bruce, LJ, Cope, DL, Jones, GK, Schofield, AE, Burley, M, Povey, S, Unwin, RJ, Wrong, O, Tanner, MJ

J Clin Invest 1997
11380459 Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III

Bracher, NA, Lyons, CA, Wessels, G, Mansvelt, E, Coetzer, TL

Br. J. Haematol. 2001
10926824 Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

Bruce, LJ, Wrong, O, Toye, AM, Young, MT, Ogle, G, Ismail, Z, Sinha, AK, McMaster, P, Hwaihwanje, I, Nash, GB, Hart, S, Lavu, E, Palmer, R, Othman, A, Unwin, RJ, Tanner, MJ

Biochem. J. 2000
Participants
Input
Participates
as an event of
Catalyst Activity

solute:inorganic anion antiporter activity of SLC4A1 mutants [plasma membrane]

Physical Entity
SLC4A1 mutants [plasma membrane] (Homo sapiens)
Activity
solute:inorganic anion antiporter activity (GO:0005452)
Normal reaction
SLC4A1 exchanges cytosolic HCO3- for extracellular Cl- (Homo sapiens)
Functional status

Loss of function of SLC4A1 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
hereditary spherocytosis DOID:12971 Minkowski Chauffard syndrome, Congenital spherocytic hemolytic anemia, spherocytic anemia
hemolytic anemia DOID:583 Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC
renal tubular acidosis DOID:14219
Cross References
Mondo
Authored
Jassal, B  (2014-12-11)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-12-11)
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