Recombinant Human Band 3 anion transport protein (SLC4A1),Truncated

Uniprot Id

P02730

Target Species

Human

Target Name

SLC4A1

Target Full Name

Band 3 anion transport protein

Target Function

Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine.

Target Involvement

Ovalocytosis, Southeast Asian (SAO); Spherocytosis 4 (SPH4); Renal tubular acidosis, distal, autosomal dominant (AD-dRTA); Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA); Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC); Cryohydrocytosis (CHC)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein.

Target Protein Families

Anion exchanger (TC 2.A.31) family

Target Tissue Specificity

Detected in erythrocytes (at protein level).; [Isoform 2]: Expressed in kidney (at protein level).

Target Research Area

Cardiovascular

Target Synonyms

AE 1; AE1; Anion exchange protein 1; Anion exchanger 1; B3AT_HUMAN; Band 3 anion transport protein; Band 3; BND3; CD233; DI; Diego blood group; EMPB3; EPB3; Erythrocyte membrane protein band 3; Erythroid anion exchange protein; FR; Froese blood group; RTA1A; SLC4A1; Solute carrier family 4 anion exchanger member 1; Solute carrier family 4 member 1; SW; Swann blood group; Waldner blood group; WD; WD1; WR; Wright blood group

Target Background

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.