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

Stable Identifier
R-HSA-5656248
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
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
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
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
Participant Of
Catalyst Activity
Catalyst Activity
Title
inorganic anion exchanger activity of SLC4A1 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
hemolytic anemia 583 Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC
hereditary spherocytosis 12971 Minkowski Chauffard syndrome, Congenital spherocytic hemolytic anemia, spherocytic anemia
renal tubular acidosis 14219
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