SLC4A1 Antibody

Code CSB-PA021663GA01HU
Size US$685
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Product Details

Uniprot No. P02730
Target Names SLC4A1
Alternative Names AE 1 antibody; AE1 antibody; Anion exchange protein 1 antibody; Anion exchanger 1 antibody; B3AT_HUMAN antibody; Band 3 anion transport protein antibody; Band 3 antibody; BND3 antibody; CD233 antibody; DI antibody; Diego blood group antibody; EMPB3 antibody; EPB3 antibody; Erythrocyte membrane protein band 3 antibody; Erythroid anion exchange protein antibody; FR antibody; Froese blood group antibody; RTA1A antibody; SLC4A1 antibody; Solute carrier family 4 anion exchanger member 1 antibody; Solute carrier family 4 member 1 antibody; SW antibody; Swann blood group antibody; Waldner blood group antibody; WD antibody; WD1 antibody; WR antibody; Wright blood group antibody
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Immunogen Human SLC4A1
Immunogen Species Homo sapiens (Human)
Isotype IgG
Purification Method Antigen Affinity purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications ELISA,IHC
Protocols ELISA Protocol
Immunohistochemistry (IHC) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Data

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
Gene References into Functions
  1. Molecular mechanism for the red blood cell senescence clock mediated by the SLC4A1 structural changes has been summarized. (Review) PMID: 29240292
  2. we show that stomatin modulates the transport activity of AE1 through a direct protein-protein interaction. PMID: 28387307
  3. SLC4A1 is the most common defective gene in Korean children with Distal Renal Tubular Acidosis. Patients with SLC4A1 mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA. PMID: 29627839
  4. this study shows functional importance of PDLIM5 for proper kAE1 membrane residency, as a crucial linker between kidney AE1 and actin cytoskeleton-associated proteins in polarized cells PMID: 28045035
  5. The patient was triply homozygous for the loss-of-function mutation, c.2102G>A (p.Gly701Asp) as well as for two benign variations, c.92T>C (p.Met31Thr) and c.166A>C (p.Lys56Glu). PMID: 29573245
  6. The promoter regions of the kidney anion exchanger 1 gene with the minor allele A at rs999716 downstream of the TATA box showed reduced promoter activities compared that with the major allele G. PMID: 27767102
  7. Here, we present the 4.1-A resolution crystal structure of Arabidopsis thaliana Bor1. The structure displays a dimeric architecture in which dimerization is mediated by centralized Gate domains. Comparisons with a structure of Band 3 in an outward-open state reveal that the Core domains of Bor1 have rotated inwards to achieve an occluded state. PMID: 27601653
  8. function of AQP1 in tonicity response could be coupled or correlated to its function in band 3-mediated CO2/HCO3(-) exchange PMID: 28596233
  9. Results from zero-length chemical crosslinking of erythrocyte membranes, homology modeling, and known domain structures allow to deduce a structure for full-length of SLC4A1. Interaction between AE1 dimers and ankyrin-1 indicate the likely topology for AE1 tetramers and suggest that ankyrin-1 wraps around AE1 tetramers, which may stabilize this oligomer state. PMID: 27989623
  10. The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. PMID: 28233610
  11. These results suggested the possible involvement of Band3 in the transport of Sphingosine 1-phosphate, a multi-functional bioactive phospholipid, from erythrocytes. PMID: 28494002
  12. the results of the present study suggest that the diffuse expression of AE1 is related to a worse prognosis in patients with advanced esophageal squamous cell carcinoma, and that it regulates tumor progression by affecting MAPK and Hedgehog signaling pathways. These results provide an insight into the role of AE1 as a mediator of and/or a biomarker for esophageal squamous cell carcinoma. PMID: 28160546
  13. study reports the R589H mutation in SLC4A1 gene in families with hereditary distal renal tubular acidosis for the first time in China PMID: 28407820
  14. Forced FOG1 protein expression in K562 erythroleukemia cells induced the expression of SLC4A1 protein, but repressed that of transcription factor PU.1. PMID: 28216155
  15. Nonsense mutation in exon 12 of SLC4A1 gene is associated with severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. PMID: 27718309
  16. While weak interactions between glycophorin and band 3 undoubtedly exist, glycophorin A and band 3 must have separate interactions in the membrane that control their lateral mobility. PMID: 27580023
  17. three merozoite proteins (PvTRAg36, PvATRAg74, and PvTRAg38) of this family interact with Band 3 on human erythrocytes through its three exofacial loops. PMID: 27545606
  18. with exacerbation of the oxidative stress during vaso-occlusive crises in sickle cell anaemia patients, the higher concentration of harmful circulating RBC-derived microparticles and the reduced anti-band 3 autoantibodies levels may be both related to the recruitment of oxidized band 3 into membrane aggregates. PMID: 27984639
  19. We propose that, in polarized renal epithelial cells, the apically mistargeted kAE1 R901X mutant is endocytosed faster than kAE1 WT and its recycling to the basolateral membrane is delayed. This resets the equilibrium, such that kAE1 R901X resides predominantly in an endomembrane compartment, thereby likely participating in development of dRTA disease. PMID: 26984737
  20. The conformational dynamics of signal-anchor transmembrane segment 1 of SLC4A1 protein of the Southeast Asian ovalocytosis red blood cells has been reported. PMID: 28068080
  21. Data indicate that the interaction of Zn(2+) ion with His-651 residue of band 3 plays an important role in the Zn(2+)-induced agglutination of erythrocytes. PMID: 26859120
  22. Syk inhibitor suppressed the phosphorylation of band 3 also preventing serine phosphorylation changes and hemolysis. PMID: 27034738
  23. The evolutionary origin of Southeast Asian Ovalocytosis, characterizing DNA sequence variation around the causal mutation in the SLC4A1 gene. PMID: 26047685
  24. This study is considered as a pilot study showing the importance of AE1 mutations in Iranian children with DRTA. PMID: 25957428
  25. The authors demonstrate that the initial vacuolar membrane around internalized Babesia divergens is formed from protein and lipid components of the red blood cells plasma membrane, including band 3, glycophorin A and spectrin. PMID: 25628009
  26. this study reports the crystal structure of the band 3 anion exchanger domain (AE1(CTD)) at 3.5 angstroms. PMID: 26542571
  27. Deficiency in Band 3 is associated with Hereditary Spherocytosis. PMID: 25344524
  28. Results indicate that Tryptophan residues play differential roles in AE1 expression and function depending on their location in the protein and that Trp mutants with low expression are misfolded and retained in the endoplasmic reticulum. PMID: 25257781
  29. Kidney AE1 actually associates with epithelial ankyrin-G and renal ammonium transporter RhBG, which also binds ankyrin-G. PMID: 25616663
  30. Activities of AE1 and the sodium pump are coregulated in kidney. PMID: 25012180
  31. The study reports the refinement for a protein heterodimer complex using limited EPR spectroscopic data and a rigid-body docking algorithm: a three-dimensional model for an ankyrin 1-BND3 complex. PMID: 24758720
  32. Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis. PMID: 25388786
  33. kidney AE1 G701D mutant which accumulates predominantly in the Golgi and partially in the endoplasmic reticulum, is prematurely degraded by the lysosome and the proteasome. PMID: 24920676
  34. In 12% of our thalassemia major patients, we found two bands in the agarose gel-electrophoresis of PCR products from band 3 gene with a difference of 65 +/- 10 bp, equivalent to a deletion of 20 to 25 amino acids in band 3 protein. PMID: 24964668
  35. Stopped-flow led to measurement of rapid transport kinetics using the natural substrate for AE1. PMID: 23842529
  36. A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters. PMID: 24121512
  37. SLC4A1 gene was a poor candidate for screening as our patients presented severe metabolic acidosis early in life. PMID: 24252324
  38. analysis of anion exchanger 1 (SLC4A1) transmembrane segments that form the transport site PMID: 23846695
  39. A heterozygous SLC4A1(E508K) mutation (gene encoding erythrocyte membrane protein band 3) was found. PMID: 23878048
  40. Trafficking of intracellularly retained distal renal tubular acidosis kAE1 mutants can be partially restored. PMID: 23460825
  41. Study developed a three-dimensional homology model of the AE1 membrane domain, using the Escherichia coli ClC channel structure as a template and conclude that AE1 has a similar protein fold to ClC chloride channels. PMID: 23583773
  42. description of 15 previously unknown mutations in SLC4A1 in hereditary spherocytosis patients; this genetic association study was conducted in the Netherlands [LETTER] PMID: 23255290
  43. The level of band 3 protein was positively correlated with physical activity and negatively correlated with systolic blood pressure. PMID: 21695904
  44. Deoxygenation of erythrocytes results in displacement of ankyrin from band 3 in the cytoskeleton. PMID: 23013433
  45. Results suggest that mutations in this gene cause morphological changes in erythrocytes and these may afford some protection against malaria PMID: 22919024
  46. Residues 63-73 of cdB3 is also essential for ankyrin binding. PMID: 22861190
  47. 1st report of distal renal tubular acidosis patients with compound heterozygous conditions in mainland China. 2 novel SLC4A1 mutations (G494S & D905dup) were identified. PMID: 22609520
  48. There is evidence that Southeast Asian ovalocytosis (SAO) erythrocytes are resistant to multiple Plasmodium species. Here we analyze SLC4A1 in 23 primates and mammals to test for differential selective pressures among different primate lineages. PMID: 22426110
  49. Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal renal tubular acidosis. PMID: 22518001
  50. a thiol-mediated and energy-dependent membrane transport of selenium by erythroid anion exchanger 1 PMID: 22580993
  51. These results suggest that AE1 is potentially a key therapeutic target and the silencing of AE1 expression in gastric mucosa could provide a new therapeutic approach for treating gastric cancer. PMID: 21649639
  52. These data indicate that de novo mutations in the band 3 gene are found associated with human genetic disease more commonly than previously recognized PMID: 22170767
  53. Hyperfibrinogenemia interferes with erythrocyte NO mobilization without changing its efflux in a way that depends on the degree of band 3 phosphorylation. At higher fibrinogen concentrations, NO efflux is reinforced when band 3 is phosphorylated. PMID: 22214711
  54. analysis of SLC4A1 A858D mutation in a homozygous state in renal tubular acidosis (dRTA) in association with membrane defect hemolytic anemia PMID: 22126643
  55. Arg 901 in the AE1 C-terminal tail is involved in conformational change but not in substrate binding. PMID: 22155194
  56. KIF3B is involved in the trafficking of kAE1 to the plasma membrane of human kidney alpha-intercalated cells. PMID: 21871436
  57. Data suggest that association of functional CAII with AE1 increases Cl(-)/HCO(3)(-) exchange activity, consistent with the HCO(3)(-) transport metabolon model. PMID: 21543742
  58. partial SLC-A1 deficiency: 12-year-old boy hospitalized for chronic compensated hemolytic anemia, with asthenia as major complaint; erythrocytes exhibit bizarre shapes (poikilocytosis) [single CASE REPORT] PMID: 21761435
  59. data are consistent with assembly of major components of the band 3 macrocomplex at an early stage during erythropoiesis PMID: 21527529
  60. a H+ microdomain 0.3 mum in diameter forms around GFP.AE1 during physiological HCO3- transport PMID: 21300752
  61. Determination of structural models of the complex between the cytoplasmic domain of erythrocyte band 3 and ankyrin-R repeats 13-24. PMID: 21493712
  62. results show that treatment of G6PD deficient red cells with diamide (0.25 mM) or divicine (0.5 mM) causes: progressive recruitment of phosphorylated AE1 in large membrane complexes which also contain hemichromes PMID: 21246053
  63. The frequencies of DI1 and DI2 alleles in the Chinese Han population were 0.0247 and 0.9753, respectively. Six new single nucleotide polymorphisms (SNPs) were found in the sequenced regions of the SLC4A1 gene. PMID: 20825599
  64. These observations, although not defining the mechanism of the red cell cation leak associated with AE1 R730C, document the importance of residue R730 to the anion translocation pathway of AE1 and its regulation. PMID: 21209359
  65. Data suggest that glycophorin A (Gpa) increases expression and activity of Cl-/HCO3- exchanger Ae1, that G719D mutation renders Ae1 mutant constructs GPA-unresponsive, and suggests a role for Ae1 amino acids 22-28 in GPA responsiveness. PMID: 21455273
  66. Dual transport properties of anion exchanger 1: the same transmembrane segment is involved in anion exchange and in a cation leak. PMID: 21257764
  67. A novel 1-bp duplication at nucleotide 2713 (c.2713dupG, band 3 Qingdao) in exon 20 of SLC4A1 in an autosomal dominant distal renal tubular acidosis family was identified. PMID: 20960171
  68. study shows that cytoplasmic hereditary spherocytosis mutants cause impaired binding of protein 4.2 to AE1, leaving protein 4.2 susceptible to loss during erythrocyte development PMID: 21039340
  69. an increase in band 3 and its degradation products was found in senescent erythrocytes; evidence about protein modifications occurring during the RBC lifespan PMID: 20561513
  70. single-nucleotide polymorphisms and haplotypes in SLC4A1 in blacks are significantly associated with preeclampsia. PMID: 20691413
  71. provide two distance constraints for the position of Q434, which is located in extracellular loop 1, connecting the first two transmembrane segments of AE1 PMID: 20828148
  72. AP-1 mu1A is involved in the kAE1 trafficking of kidney alpha-intercalated cells. PMID: 20833140
  73. Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions. PMID: 20628050
  74. Application of real-time PCR and melting curve analysis in rapid Diego blood group genotyping. PMID: 20932077
  75. 2 unrelated Indian patients with combined hemolytic anemia and dRTA had homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site. PMID: 20799361
  76. podocyte protein kidney anion exchanger 1 interacts with nephrin and kinase to maintain the structure and function of the glomerular basement membrane. PMID: 20576809
  77. This review explores what is known about the erythrocyte membrane protein band 3 complexes of mice and humans, focussing on the observed species differences and their potential functional consequences. PMID: 20346715
  78. Impaired trafficking of the kAE1 G701D and A858D mutants would lead to a profound decrease in functional kAE1 at the basolateral membrane of alpha-intercalated cells in the distal nephron of the patients with distal renal tubular acidosis. PMID: 20151848
  79. Distal renal tubular acidosis in Filipino children was associated with mutations of the SLC4A1 gene that codes for bicarbonate/chloride anion-exchanger 1 protein in the red cell membrane and in the proton-secreting cell of the renal collecting duct. PMID: 20068363
  80. These results suggest that cross-talk between the mutated Anion Exchange Protein 1 (band 3 protein) and other transporters might increase the cation permeability in cryohydrocytosis. PMID: 20015879
  81. Data suggest that His 834 of Band 3 is critically important for the efficient binding of sulfate anion, but not for the conformational change induced by substrate binding. PMID: 20132789
  82. Data suggest that one or both of proteins 4.1 and 4.2 cause a portion of band 3 to localize near the spectrin-actin junctions and provide another point of attachment between the membrane skeleton and the lipid bilayer. PMID: 20007969
  83. 3D density map revealed that hB3MD consists of at least two subdomains and that the outward-open form is characterized by a large hollow area on the extracellular surface and continuous density on the intracellular surface. PMID: 20005958
  84. regulation of miR-24-related AE1 expression in gastric carcinogenesis and erythropoiesis. PMID: 20062076
  85. Electron microscopy was used to solve the three-dimensional structure of the AE1 membrane domain, fixed in an outward-open conformation by cross-linking, at 7.5-A resolution. PMID: 20100494
  86. Approximately 5 kb of SLC4A1 in an Indonesian population where Southeast Asian ovalocytosis is prevalent was resequenced to better understand the evolution of this clinically important trait. PMID: 19229254
  87. Heterozygous missense mutation E758K in the human AE1/SLC4A1/band 3 gene in two unrelated patients with well-compensated hereditary spherostomatocytic anemia induces glycophorin A-independent, endogenous cation transport. PMID: 19907019
  88. function as anion exchanger PMID: 11831035
  89. REVIEW. Involvement in erythrocyte and kidney disorders. PMID: 11844997
  90. clarification of sidedness of lysine 743 residue PMID: 11876646
  91. R589H distal renal tubular acidosis(dRTA)mutation creates a severe trafficking defect in kAE1 but not in erythroid AE1 [kAE1] PMID: 11934690
  92. extracellular loop 4 binds carbonic anhydrase IV PMID: 11994299
  93. G701D mutation of anion exchanger 1 gene causes autosomal recessive distal renal tubular acidosis. PMID: 12087557
  94. Sulfate transport by band-3 protein in adult human erythrocytes was shown to be modulated by oxygen pressure. PMID: 12101015
  95. substrate-dependent reversal of anion transport site orientation in the human red blood cell anion-exchange protein, AE-1 PMID: 12149479
  96. Ca2+ promotes erythrocyte band 3 tyrosine phosphorylation via dissociation of phosphotyrosine phosphatase from band 3. PMID: 12175337
  97. mutant kAE1 proteins exhibited impaired trafficking from the endoplasmic reticulum to the plasma membrane as determined by immunolocalization, cell-surface biotinylation, oligosaccharide processing and pulse-chase experiments PMID: 12227829
  98. an examination of the topology in the c-terminal domain of this protein PMID: 12446737
  99. Functional alteration of band 3 is due to its oxidative modification originated as a consequence of the exposure to hypobaric hypoxia and further reoxygenation. PMID: 12466935
  100. role of the N-terminal region of the transmembrane domain PMID: 12482865

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Involvement in disease 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)
Subcellular Location Cell membrane, Multi-pass membrane protein, Basolateral cell membrane, Multi-pass membrane protein
Protein Families Anion exchanger (TC 2.A.31) family
Tissue Specificity Detected in erythrocytes (at protein level) (PubMed:7506871, PubMed:26542571). Isoform 2 is expressed in kidney (at protein level) (PubMed:7506871).
Database Links

HGNC: 11027

OMIM: 109270

KEGG: hsa:6521

STRING: 9606.ENSP00000262418

UniGene: Hs.210751


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