SLC4A1（溶质载体家族4成员1，Solute Carrier Family 4 Member 1）基因编码一种称为带3蛋白（Band 3 protein）或阴离子交换蛋白1（AE1）的膜蛋白，属于SLC4基因家族。该家族主要参与碳酸氢盐转运，调节细胞内pH值和电解质平衡。SLC4A1主要在红细胞膜和肾脏中表达，在红细胞中负责氯离子和碳酸氢根的交换（阴离子交换功能），维持红细胞形态和稳定性；在肾脏中参与尿液酸化过程。SLC4A1基因突变可导致遗传性球形红细胞增多症（Hereditary Spherocytosis）和东南亚卵形红细胞增多症（SAO），表现为红细胞形态异常、溶血性贫血。某些突变还与远端肾小管酸中毒（dRTA）相关，影响肾脏酸碱平衡调节。SLC4A1过表达可能破坏红细胞膜稳定性，导致溶血；而表达降低则可能影响红细胞寿命和肾脏酸化功能。SLC4A1与血型系统相关（Diego血型抗原），其突变可能影响血型鉴定。SLC4基因家族共包含10个成员（如SLC4A2/AE2、SLC4A3/AE3等），均具有跨膜转运功能，参与酸碱平衡、细胞体积调节等生理过程。该家族蛋白通常具有12-14个跨膜结构域，通过钠依赖或钠非依赖机制转运碳酸氢盐或其他溶质。

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, Jul 2008]

由该基因编码的蛋白质是阴离子交换（AE）家族的一员，并在红细胞质膜，在那里它充当参与从组织至肺部二氧化碳运输氯化物/碳酸氢盐热交换器表示。蛋白质包含两个结构域在结构上和功能上不同。 N-末端40kDa域位于细胞质和充当附着位点通过结合锚蛋白红细胞骨架。糖基化C-末端膜相关域包含12-14跨膜段和执行阴离子的二苯乙烯二磺酸敏感的交换传输。在膜结构域的极端C-末端胞质尾结合碳酸酐二。与红细胞膜蛋白血型糖蛋白A和该协会所编码的蛋白质相关联促进器的正确折叠和转运。这种蛋白质主要是二聚，但在锚蛋白的存在下形成的四聚体。在此基因的许多突变的人是已知的，并且这些突变可导致两种类型的疾病：红细胞膜导致遗传性球形，和有缺陷的肾酸分泌导致远端肾小管酸中毒不稳定。其他突变不引起疾病导致新颖血型抗原，其形成迭血型系统。从编码蛋白缺失的杂合子存在东南亚ovalocytosis（SAO，美拉尼西亚ovalocytosis）结果和常见在恶性疟流行区。这种基因的一个空突变是已知的，导致非常严重的贫血和肾钙化。 [由RefSeq的，2008年7月提供]

SLC4A1基因在不同组织中的表达：    [UniProt]

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