Band 3 Products

Description

The protein encoded by the Band 3 gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. (provided by RefSeq)

Bioinformatics

Entrez	20533 Mouse 6521 Human
Uniprot	AAH99628.1 Human NP_000333 Human NP_000333.1 Human P02730 Human
Product By Gene ID	6521
Alternate Names	AE 1 AE1MGC126619 Anion exchange protein 1 Anion exchanger 1 band 3 anion transport protein BND3 CD233 antigen CD233 DI EMPB3 EPB3MGC126623 erythrocyte membrane protein band 3 erythroid anion exchange protein FR Froese blood group MGC116750 MGC116753 RTA1A Solute carrier family 4 member 1 solute carrier family 4, anion exchanger, member 1 (erythrocyte membraneprotein band 3, Diego blood group) solute carrier family 4, anion exchanger, number 1 SW Swann blood group Waldner blood group WD WD1 WR Wright blood group

Research Areas for Band 3

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Phospho-Specific