Protein: P02730

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
P02730 (Uniprot) B3AT_HUMAN SLC4A1 Band 3 anion transport protein human Yes
Uniprot: 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. more..

Function 1: Anion exchanger, electroneutral anion exchange across the cell membrane. Regulates glycolysis.

Function 2: Strutural protein binding to cytoskeletal proteins.

Publications (PMID): 8325839

No results found.
Module ID (MoonGO) GO ID (CC) GO Name
85 GO:0016021 integral component of membrane
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0006820 anion transport IDA
GO:0006821 chloride transport ISS
GO:0006873 cellular ion homeostasis TAS
GO:0015701 bicarbonate transport TAS
GO:0035725 sodium ion transmembrane transport IEA
GO:0051453 regulation of intracellular pH IBA
GO:1902476 chloride transmembrane transport IEA
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005886 plasma membrane TAS
GO:0005887 integral component of plasma membrane IDA
GO:0016021 integral component of membrane NAS
GO:0016323 basolateral plasma membrane IDA
GO:0030018 Z disc ISS
GO:0030863 cortical cytoskeleton IDA
GO:0070062 extracellular exosome IDA
GO:0072562 blood microparticle IDA
No pairs of PrOnto dissimilar CC GO terms found.
PMID Article Title
701248 Orientation of the band 3 polypeptide from human erythrocyte membranes. Identification of NH2-terminal sequence and site of carbohydrate attachment.
1352774 Anion-proton cotransport through the human red blood cell band 3 protein. Role of glutamate 681.
1378323 Band 3 Tuscaloosa: Pro-327-->Arg substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.
1527044 A structural study of the membrane domain of band 3 by tryptic digestion. Conformational change of band 3 in situ induced by alkali treatment.
1538405 Basis of unique red cell membrane properties in hereditary ovalocytosis.
1678289 Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56-->Glu) by protein chemistry methods.
1722314 Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
1885574 Palmitoylation of cysteine 69 from the COOH-terminal of band 3 protein in the human erythrocyte membrane. Acylation occurs in the middle of the consensus sequence of F--I-IICLAVL found in band 3 protein and G2 protein of Rift Valley fever virus.
1998697 Phosphorylation sites in human erythrocyte band 3 protein.
2594752 Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).
2790053 Primary structure of the cytoplasmic domain of human erythrocyte protein band 3. Comparison with its sequence in the mouse.
3223947 The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence.
3372523 Localization of the pyridoxal phosphate binding site at the COOH-terminal region of erythrocyte band 3 protein.
6345535 Amino acid sequence of the N alpha-terminal 201 residues of human erythrocyte membrane band 3.
6615451 The human erythrocyte anion-transport protein. Partial amino acid sequence, conformation and a possible molecular mechanism for anion exchange.
7506871 Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus.
7530501 Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
7665627 The ANK repeats of erythrocyte ankyrin form two distinct but cooperative binding sites for the erythrocyte anion exchanger.
7812009 Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: a site of interaction between band 3 and glycophorin A under certain conditions.
8045253 Three-dimensional map of the dimeric membrane domain of the human erythrocyte anion exchanger, Band 3.
8168533 The solution structures of the first and second transmembrane-spanning segments of band 3.
8206915 Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro-854-->Leu.
8343110 Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3.
8471774 Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40 glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore).
8508760 Two-dimensional structure of the membrane domain of human band 3, the anion transport protein of the erythrocyte membrane.
8527430 Solution structure of a band 3 peptide inhibitor bound to aldolase: a proposed mechanism for regulating binding by tyrosine phosphorylation.
8547122 Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
8640229 Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
8943874 Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
9012689 Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.
9191821 Blood group antigens Rb(a), Tr(a), and Wd(a) are located in the third ectoplasmic loop of erythroid band 3.
9207478 Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
9233560 Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
9312167 Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
9454576 Insights into tyrosine phosphorylation control of protein-protein association from the NMR structure of a band 3 peptide inhibitor bound to glyceraldehyde-3-phosphate dehydrogenase.
9600966 Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
9709005 NMR solution structure of a cytoplasmic surface loop of the human red cell anion transporter, band 3.
9709782 A Gly565-->Ala substitution in human erythroid band 3 accounts for the Wu blood group polymorphism.
9765907 Studies on the structure of a transmembrane region and a cytoplasmic loop of the human red cell anion exchanger.
9845551 Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein.
9854053 Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A.
9973643 Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis.
10580570 Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis.
10738034 Amino acid substitutions in human erythroid protein band 3 account for the low-incidence antigens NFLD and BOW.
10745622 Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
10861210 Processing of N-linked oligosaccharide depends on its location in the anion exchanger, AE1, membrane glycoprotein.
10926824 Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.
10942405 Sequential phosphorylation of protein band 3 by Syk and Lyn tyrosine kinases in intact human erythrocytes: identification of primary and secondary phosphorylation sites.
10942416 Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.
11049968 Crystallographic structure and functional interpretation of the cytoplasmic domain of erythrocyte membrane band 3.
11061863 An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism.
11155072 Distinctive Swann blood group genotypes: molecular investigations.
11208088 Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
11380459 Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.
14734552 A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
15211439 Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15813913 Band 3Tambau: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.
16227998 Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
16252102 Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.
20151848 Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.
21269460 Initial characterization of the human central proteome.
21849667 Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
23219802 Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains.
24121512 A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters.
24275569 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
26049106 Transmembrane protein 139 (TMEM139) interacts with human kidney isoform of anion exchanger 1 (kAE1).
26542571 Crystal structure of the anion exchanger domain of human erythrocyte band 3.
OMIM ID Disease Name
166900 Ovalocytosis, Southeast Asian
179800 Renal tubular acidosis, distal, autosomal dominant
185020 Cryohydrocytosis
611590 Renal tubular acidosis, distal, with hemolytic anemia
611590 Renal tubular acidosis, distal, with normal red cell morphology
Domain Name Domain ID Source
B3HU A36218 PIR
Anion_exchange IPR001717 InterPro
Anion_exchange_1 IPR002977 InterPro
HCO3_transpt_euk IPR003020 InterPro
HCO3_transpt_C IPR011531 InterPro
Band3_cytoplasmic_dom IPR013769 InterPro
PTrfase/Anion_transptr IPR016152 InterPro
Anion_exchange_CS IPR018241 InterPro
HCO3_cotransp PF00955 Pfam
Band_3_cyto PF07565 Pfam
SSF55804 SSF55804 SUPFAM