| Name | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) |
| Symbol | SLC4A1 |
| Aliases | DI; AE1; WD1; BND3; EPB3; CD233; EMPB3; RTA1A; Waldner blood group; anion exchange protein 1 |
| Gene Product | - solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
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| Category | |
| UniGene |
Hs.443948
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | The CD233 gene is located on chromosome 17q21-q22 and is part of the anion exchanger (AE) family. CD233 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. CD233 associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of CD233. CD233 is predominantly dimeric but forms tetramers in the presence of ankyrin. Many CD233 mutations 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 CD233 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 CD233 protein and is common in areas where Plasmodium falciparum malaria is endemic. One CD233 null human is known also with very severe anemia and nephrocalcinosis [PROW] |
| Gene Ontology | |
| Expression | | EST (79 ESTs, 26 libraries) |
| Tissue | Breadth ? |
CPM ? |
| blood |  | | | bone | | | | brain | | | | heart | | | | kidney |  | | | liver | | | | placenta | | | | spleen | | | | uncharacterized tissue | | | | whole body | | |
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| Evidence | Mutation in Rrenal Tubular Acidosis
- Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP, Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomaldominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A 1998 May 26;95(11):6337-42.
- Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJ, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL Autosomal dominant distal renal tubular acidosis is associated in threefamilies with heterozygosity for the R589H mutation in the AE1 (band 3)Cl-/HCO3- exchanger. J Biol Chem 1998 Mar 13;273(11):6380-8.
- Rysava R, Tesar V, Jirsa M Jr, Brabec V, Jarolim P Incomplete distal renal tubular acidosis coinherited with a mutation inthe band 3 (AE1) gene. Nephrol Dial Transplant 1997 Sep;12(9):1869-73.
- Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ Familial distal renal tubular acidosis is associated with mutations in thered cell anion exchanger (Band 3, AE1) gene. J Clin Invest 1997 Oct 1;100(7):1693-707.
- Yenchitsomanus PT, Vasuvattakul S, Kirdpon S, Wasanawatana S, Susaengrat W, Sreethiphayawan S, Chuawatana D, Mingkum S, Sawasdee N, Thuwajit P, Wilairat P, Malasit P, Nimmannit S, Yenchitsomanus PT, Vasuvattakul S, Kirdpon S, Wasanawatana S, Susaengrat W, Sreethiphayawan S, Chuawatana D, Mingkum S, Sawasdee N, Thuwajit P, Wilairat P, Malasit P, Nimmannit S Autosomal recessive distal renal tubular acidosis caused by G701D mutationof anion exchanger 1 gene. Am J Kidney Dis 2002 Jul;40(1):21-9.
- Cheidde L, Vieira TC, Lima PR, Saad ST, Heilberg IP, Cheidde L, Vieira TC, Lima PR, Saad ST, Heilberg IP, Cheidde L, Vieira TC, Lima PR, Saad ST, Heilberg IP A novel mutation in the anion exchanger 1 gene is associated with familialdistal renal tubular acidosis and nephrocalcinosis. Pediatrics 2003 Dec;112(6 Pt 1):1361-7.
Other key publications related to this gene
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