Summary:
The protein encoded by this 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] (PubMed Links)
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| Domains and Motifs:
Gene Ontology:
KEGG - Enzyme ID(s):
KEGG - Orthology:
K06573
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KEGG - Pathway(s):
hsa04966
(The yellow boxes represents platelet proteins) |
Nomenclature / Alternative Names:
Band 3 of red cell membrane; BND3; Erythroid protein band 3; EPB3; EMPB3; Anion exchange protein 1; AE1; CD233 antigen
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Approved Symbol:
| (De-) Phosphorylations:
Phosphorylation Targets:
| Total phosphorylation targets: 0 |
| Human phosphorylation targets: 0; | Predicted platelet targets: 0 |
| Protein Characteristics:
|  Associated Drugs (DrugBank Accession):
None Available
Associated Genetic Diseases:
Band 3 Memphis(Pd); Diego blood group Antigen(Pd); Froese blood group antigen(Pd); Hemolytic anemia due to band 3 Montefiore(Pd); Ovalocytosis, southeast asian(Pd); Renal tubular acidosis, autosomal dominant(Pd); Renal tubular acidosis, distal, autosomal dominant(Pd); Renal tubular acidosis, distal, autosomal recessive(Pd); Spherocytosis, hereditary(Pd); Spherocytosis, hereditary, due to band 3 Cape Town(Pd); Spherocytosis, hereditary, due to band 3 Chur(Pd); Spherocytosis, hereditary, due to band 3 Fukuoka(Pd); Spherocytosis, hereditary, due to band 3 Genas(Pd); Spherocytosis, hereditary, due to band 3 Lyon(Pd); Spherocytosis, hereditary, due to band 3 Noirterre(Pd); Spherocytosis, hereditary, due to band 3 Prague(Pd); Spherocytosis, hereditary, due to band 3 Prague ii(Pd); Spherocytosis, hereditary, due to band 3 Prague III(Pd); Spherocytosis, hereditary, due to band 3 Tokyo(Pd); Spherocytosis, hereditary, due to band 3 Tuscaloosa(Pd); Swann blood group antigen(Pd); Waldner blood group antigen(Pd); Wright blood group Antigen(Pd)
| Predicted Transmembrane Domains:
| Additional Identifiers:
| HPRD: | 00175 | | Entrez Gene ID: | 6521 | | OMIM ID: | 109270 | | Swissprot Accession: | P02730; | | |
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