Human Kidney Gene DataBase

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)
UniGene Hs.443948 
Reference Sequence
mRNA: NM_000342 Protein: NP_000333
LocusLink: 6521Chromosome: 17Cytoband: 17q21-q22 UCSC Genome Map Eesembl Genome Map
SummaryThe 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
EST (79 ESTs, 26 libraries)
Tissue Breadth ? CPM ?
bloodBreadth of expression: 2 out of  32 libraries express this gene (6.25%)Average CPM:3.14
boneBreadth of expression: 1 out of  24 libraries express this gene (4.17%)Average CPM:2.39
brainBreadth of expression: 2 out of  759 libraries express this gene (0.26%)Average CPM:2.00
heartBreadth of expression: 2 out of  26 libraries express this gene (7.69%)Average CPM:57.28
kidneyBreadth of expression: 3 out of  145 libraries express this gene (2.07%)Average CPM:1.01
liverBreadth of expression: 2 out of  65 libraries express this gene (3.08%)Average CPM:10.75
placentaBreadth of expression: 1 out of  358 libraries express this gene (0.28%)Average CPM:93.08
spleenBreadth of expression: 1 out of  15 libraries express this gene (6.67%)Average CPM:4.73
uncharacterized tissueBreadth of expression: 9 out of  1739 libraries express this gene (0.52%)Average CPM:3.02
whole bodyBreadth of expression: 1 out of  12 libraries express this gene (8.33%)Average CPM:0.51
EvidenceMutation in Rrenal Tubular Acidosis

Other key publications related to this gene

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Department of Urology
University of California, San Francisco