| HGNC Family | Blood group antigens, CD molecules (CD), Solute carriers (SLC) |
| Name | solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC4A1 encodes the anion exchanger 1 (AE1, also known as band 3), a key membrane protein that mediates the electroneutral exchange of chloride and bicarbonate across the plasma membranes of erythrocytes and kidney α‐intercalated cells. This transport underlies efficient removal of CO₂ from tissues and is essential in acid–base homeostasis. High‐resolution structural studies have revealed an outward‐facing open conformation and have led to proposals for an “elevator” mechanism by which substrates are translocated. In addition, AE1 is a central component of a bicarbonate transport metabolon, interacting with intracellular carbonic anhydrase II and cell surface–anchored CAIV (and CAIX in specialized cells), while its role as a blood group antigen supports its clinical utility in DNA‐based typing."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in anion exchange, AE1 exhibits a complex structural organization that is critical for its interactions with numerous cytoskeletal and regulatory proteins. Detailed topology studies have mapped key transmembrane segments and defined extracellular and cytoplasmic loops that serve as docking sites for proteins such as ankyrin, protein 4.2, and various glycolytic enzymes. These interactions anchor the spectrin–actin cytoskeleton to the lipid bilayer and contribute to oxygen‐dependent metabolic regulation, thereby maintaining red cell deformability and efficient gas exchange. Comparative analyses across members of the SLC4 family and related transporters have further illuminated these multidomain interactions and signal‐modulating roles."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "19"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAlterations in AE1 function resulting from mutations or post‐translational modifications have been implicated in a spectrum of human disorders. Mutations in SLC4A1 can lead to defective trafficking and mis‐targeting—mechanisms that underlie various forms of hereditary hemolytic anemia and distal renal tubular acidosis—even when anion exchange activity is largely preserved. Certain point mutations may even convert AE1 from an electroneutral exchanger to a cation leak pathway, while oxidative modifications and dysregulated tyrosine phosphorylation promote abnormal oligomerization and highlight roles in red cell aging and clearance. In addition, aberrant AE1 interactions have been linked to altered oxygen‐dependent regulation of glycolysis, predisposition for priapism, and cytoplasmic sequestration of regulators in malignancies. Comparative studies with homologous transporters, as well as insights from multiprotein complex assembly during erythropoiesis, further emphasize that the precise structural integrity of AE1 is critical for its multifaceted roles in ion transport, cellular signaling, and membrane stability."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "20", "end_ref": "43"}, {"type": "fg_f", "ref": "39"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Takatoshi Arakawa, Takami Kobayashi-Yurugi, Yilmaz Alguel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystal structure of the anion exchanger domain of human erythrocyte band 3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.aaa4335"}], "href": "https://doi.org/10.1126/science.aaa4335"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26542571"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26542571"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Deborah Sterling, Bernardo V Alvarez, Joseph R Casey "}, {"type": "b", "children": [{"type": "t", "text": "The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M202562200"}], "href": "https://doi.org/10.1074/jbc.M202562200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11994299"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11994299"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ghazala Hashmi, Tasmia Shariff, Michael Seul, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A flexible array format for large-scale, rapid blood group DNA typing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transfusion (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1537-2995.2005.04362.x"}], "href": "https://doi.org/10.1111/j.1537-2995.2005.04362.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15847654"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15847654"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Patricio E Morgan, Silvia Pastoreková, Alan K Stuart-Tilley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interactions of transmembrane carbonic anhydrase, CAIX, with bicarbonate transporters."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Cell Physiol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpcell.00157.2007"}], "href": "https://doi.org/10.1152/ajpcell.00157.2007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17652430"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17652430"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ian A Lewis, M Estela Campanella, John L Markley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of band 3 in regulating metabolic flux of red blood cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0905999106"}], "href": "https://doi.org/10.1073/pnas.0905999106"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19846781"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19846781"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Neera K Dahl, Lianwei Jiang, Marina N Chernova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deficient HCO3- transport in an AE1 mutant with normal Cl- transport can be rescued by carbonic anhydrase II presented on an adjacent AE1 protomer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M308660200"}], "href": "https://doi.org/10.1074/jbc.M308660200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12933803"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12933803"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tomohiro Yamaguchi, Yohei Ikeda, Yoshito Abe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structure of the membrane domain of human erythrocyte anion exchanger 1 revealed by electron crystallography."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2010.01.027"}], "href": "https://doi.org/10.1016/j.jmb.2010.01.027"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20100494"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20100494"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Antonio Galtieri, Ester Tellone, Leonardo Romano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Band-3 protein function in human erythrocytes: effect of oxygenation-deoxygenation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0005-2736(02)00454-6"}], "href": "https://doi.org/10.1016/s0005-2736(02"}, {"type": "t", "text": "00454-6) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12101015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12101015"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Quansheng Zhu, Diana W K Lee, Joseph R Casey "}, {"type": "b", "children": [{"type": "t", "text": "Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M207797200"}], "href": "https://doi.org/10.1074/jbc.M207797200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12446737"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12446737"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Debabrata Mandal, Veronique Baudin-Creuza, Asima Bhattacharyya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Caspase 3-mediated proteolysis of the N-terminal cytoplasmic domain of the human erythroid anion exchanger 1 (band 3)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M306914200"}], "href": "https://doi.org/10.1074/jbc.M306914200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14570914"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14570914"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Michael J A Tanner "}, {"type": "b", "children": [{"type": "t", "text": "Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Opin Hematol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/00062752-200203000-00009"}], "href": "https://doi.org/10.1097/00062752-200203000-00009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11844997"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11844997"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Emile van den Akker, Timothy J Satchwell, Rosalind C Williamson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Band 3 multiprotein complexes in the red cell membrane; of mice and men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood Cells Mol Dis (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bcmd.2010.02.019"}], "href": "https://doi.org/10.1016/j.bcmd.2010.02.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20346715"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20346715"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Seon Hee Chang, Philip S Low "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a critical ankyrin-binding loop on the cytoplasmic domain of erythrocyte membrane band 3 by crystal structure analysis and site-directed mutagenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M211137200"}], "href": "https://doi.org/10.1074/jbc.M211137200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12482869"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12482869"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Silverio Perrotta, Adriana Borriello, Andrea Scaloni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2005-07-2806"}], "href": "https://doi.org/10.1182/blood-2005-07-2806"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16118313"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16118313"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Marko Stefanovic, Estela Puchulu-Campanella, Gayani Kodippili, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte membrane."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20120869"}], "href": "https://doi.org/10.1042/BJ20120869"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23013433"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23013433"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Antonella Pantaleo, Emanuela Ferru, Franco Carta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Irreversible AE1 tyrosine phosphorylation leads to membrane vesiculation in G6PD deficient red cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0015847"}], "href": "https://doi.org/10.1371/journal.pone.0015847"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21246053"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21246053"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Yehudit Zipser, Adi Piade, Alexander Barbul, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ca2+ promotes erythrocyte band 3 tyrosine phosphorylation via dissociation of phosphotyrosine phosphatase from band 3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20020359"}], "href": "https://doi.org/10.1042/BJ20020359"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12175337"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12175337"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Jesse L Grey, Gayani C Kodippili, Katya Simon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of contact sites between ankyrin and band 3 in the human erythrocyte membrane."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi300693k"}], "href": "https://doi.org/10.1021/bi300693k"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22861190"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22861190"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Timothy J Satchwell, Amanda J Bell, Stephanie Pellegrin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Critical band 3 multiprotein complex interactions establish early during human erythropoiesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2010-10-314187"}], "href": "https://doi.org/10.1182/blood-2010-10-314187"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21527529"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21527529"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Antonella Pantaleo, Emanuela Ferru, Giuliana Giribaldi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oxidized and poorly glycosylated band 3 is selectively phosphorylated by Syk kinase to form large membrane clusters in normal and G6PD-deficient red blood cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20081557"}], "href": "https://doi.org/10.1042/BJ20081557"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18945214"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18945214"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Emmanuelle Cordat, Saranya Kittanakom, Pa-Thai Yenchitsomanus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Traffic (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0854.2005.00366.x"}], "href": "https://doi.org/10.1111/j.1600-0854.2005.00366.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16420521"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16420521"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Luciana Bordin, Anna Maria Brunati, Arianna Donella-Deana, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Band 3 is an anchor protein and a target for SHP-2 tyrosine phosphatase in human erythrocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood.v100.1.276"}], "href": "https://doi.org/10.1182/blood.v100.1.276"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12070037"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12070037"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Janne A Quilty, Jing Li, Reinhart A Reithmeier "}, {"type": "b", "children": [{"type": "t", "text": "Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Renal Physiol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajprenal.00216.2001"}], "href": "https://doi.org/10.1152/ajprenal.00216.2001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11934690"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11934690"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kidney Int (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.kint.2016.12.017"}], "href": "https://doi.org/10.1016/j.kint.2016.12.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28233610"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28233610"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Nanyawan Rungroj, Mark A J Devonald, Alan W Cuthbert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M400188200"}], "href": "https://doi.org/10.1074/jbc.M400188200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14734552"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14734552"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Bryan H Thurtle-Schmidt, Robert M Stroud "}, {"type": "b", "children": [{"type": "t", "text": "Structure of Bor1 supports an elevator transport mechanism for SLC4 anion exchangers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1612603113"}], "href": "https://doi.org/10.1073/pnas.1612603113"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27601653"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27601653"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Roy E Weber, Wolfgang Voelter, Angela Fago, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Modulation of red cell glycolysis: interactions between vertebrate hemoglobins and cytoplasmic domains of band 3 red cell membrane proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Regul Integr Comp Physiol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpregu.00060.2004"}], "href": "https://doi.org/10.1152/ajpregu.00060.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15087282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15087282"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Antonella Pantaleo, Emanuela Ferru, Maria Carmina Pau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Band 3 Erythrocyte Membrane Protein Acts as Redox Stress Sensor Leading to Its Phosphorylation by p (72) Syk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oxid Med Cell Longev (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2016/6051093"}], "href": "https://doi.org/10.1155/2016/6051093"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27034738"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27034738"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Stefanie Rungaldier, Walter Oberwagner, Ulrich Salzer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbamem.2012.11.030"}], "href": "https://doi.org/10.1016/j.bbamem.2012.11.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23219802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23219802"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Janne A Quilty, Emmanuelle Cordat, Reinhart A F Reithmeier "}, {"type": "b", "children": [{"type": "t", "text": "Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20020574"}], "href": "https://doi.org/10.1042/BJ20020574"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12227829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12227829"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Laine Elliott, Allison E Ashley-Koch, Laura De Castro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic polymorphisms associated with priapism in sickle cell disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Haematol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1365-2141.2007.06560.x"}], "href": "https://doi.org/10.1111/j.1365-2141.2007.06560.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17408468"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17408468"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Saranya Kittanakom, Emmanuelle Cordat, Varaporn Akkarapatumwong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M405356200"}], "href": "https://doi.org/10.1074/jbc.M405356200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15252044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15252044"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Wei-Wei Shen, Jun Wu, Li Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of anion exchanger 1 sequestrates p16 in the cytoplasm in gastric and colonic adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neoplasia (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1593/neo.07403"}], "href": "https://doi.org/10.1593/neo.07403"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17971901"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17971901"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Lara Cheidde, Teresa Cristina Vieira, Paulo Roberto Moura Lima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatrics (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1542/peds.112.6.1361"}], "href": "https://doi.org/10.1542/peds.112.6.1361"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14654610"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14654610"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Hélène Guizouarn, Sonia Martial, Nicole Gabillat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2006-12-063420"}], "href": "https://doi.org/10.1182/blood-2006-12-063420"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17554061"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17554061"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Pa-thai Yenchitsomanus, Somkiat Vasuvattakul, Sukachart Kirdpon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Kidney Dis (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/ajkd.2002.33909"}], "href": "https://doi.org/10.1053/ajkd.2002.33909"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12087557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12087557"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Lucia Ciccoli, Viviana Rossi, Silvia Leoncini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Iron release, superoxide production and binding of autologous IgG to band 3 dimers in newborn and adult erythrocytes exposed to hypoxia and hypoxia-reoxygenation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbagen.2004.04.003"}], "href": "https://doi.org/10.1016/j.bbagen.2004.04.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15182940"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15182940"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Yoshihiro Kokubo, Hitonobu Tomoike, Chihiro Tanaka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hypertens Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1291/hypres.29.611"}], "href": "https://doi.org/10.1291/hypres.29.611"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17137217"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17137217"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Donia Elhayek, Gustavo Perez de Nanclares, Slaheddine Chouchane, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-14-119"}], "href": "https://doi.org/10.1186/1471-2350-14-119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24252324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24252324"}]}, {"type": "r", "ref": 40, "children": [{"type": "t", "text": "Andrew K Stewart, Prabhakar S Kedar, Boris E Shmukler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Cell Physiol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpcell.00447.2010"}], "href": "https://doi.org/10.1152/ajpcell.00447.2010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21209359"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21209359"}]}, {"type": "r", "ref": 41, "children": [{"type": "t", "text": "S Khositseth, L J Bruce, S B Walsh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "QJM (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/qjmed/hcs139"}], "href": "https://doi.org/10.1093/qjmed/hcs139"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22919024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22919024"}]}, {"type": "r", "ref": 42, "children": [{"type": "t", "text": "Lesley J Bruce, Rui-jun Pan, Diane L Cope, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Altered structure and anion transport properties of band 3 (AE1, SLC4A1) in human red cells lacking glycophorin A."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M309826200"}], "href": "https://doi.org/10.1074/jbc.M309826200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14604989"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14604989"}]}, {"type": "r", "ref": 43, "children": [{"type": "t", "text": "Sheral S Patel, Christopher L King, Charles S Mgone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Glycophorin C (Gerbich antigen blood group) and band 3 polymorphisms in two malaria holoendemic regions of Papua New Guinea."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hematol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajh.10448"}], "href": "https://doi.org/10.1002/ajh.10448"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14695625"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14695625"}]}]}]}
|
| Synonyms | WR, DI, SW, EMPB3, RTA1A, EPB3, SPH4, FR, AE1, WD1, CD233, BND3, SAO |
| Proteins | B3AT_HUMAN |
| NCBI Gene ID | 6521 |
| API | |
| Download Associations | |
| Predicted Functions |
![]() |
| Co-expressed Genes |
![]() |
| Expression in Tissues and Cell Lines |
![]() |
SLC4A1 has 6,572 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 127 datasets.
Click the + buttons to view associations for SLC4A1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by SLC4A1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of SLC4A1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of SLC4A1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of SLC4A1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of SLC4A1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of SLC4A1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of SLC4A1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of SLC4A1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of SLC4A1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of SLC4A1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with SLC4A1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC4A1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of SLC4A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of SLC4A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with SLC4A1 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with SLC4A1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of SLC4A1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing SLC4A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing SLC4A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with SLC4A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with SLC4A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with SLC4A1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with SLC4A1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with SLC4A1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| dbGAP Gene-Trait Associations | traits associated with SLC4A1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by SLC4A1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DEPOD Substrates of Phosphatases | phosphatases that dephosphorylate SLC4A1 protein from the curated DEPOD Substrates of Phosphatases dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving SLC4A1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving SLC4A1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with SLC4A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with SLC4A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with SLC4A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with SLC4A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at SLC4A1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of SLC4A1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of SLC4A1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing SLC4A1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GAD Gene-Disease Associations | diseases associated with SLC4A1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with SLC4A1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
| GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of SLC4A1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with SLC4A1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing SLC4A1 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of SLC4A1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of SLC4A1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of SLC4A1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of SLC4A1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of SLC4A1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of SLC4A1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GlyGen Glycosylated Proteins | ligands (chemical) binding SLC4A1 protein from the GlyGen Glycosylated Proteins dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving SLC4A1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving SLC4A1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving SLC4A1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing SLC4A1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing SLC4A1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing SLC4A1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by SLC4A1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by SLC4A1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by SLC4A1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of SLC4A1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of SLC4A1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations | phenotypes associated with SLC4A1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with SLC4A1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with SLC4A1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with SLC4A1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of SLC4A1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of SLC4A1 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of SLC4A1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of SLC4A1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with SLC4A1 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| Hub Proteins Protein-Protein Interactions | interacting hub proteins for SLC4A1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
| HuBMAP ASCT+B Annotations | cell types associated with SLC4A1 gene from the HuBMAP ASCT+B dataset. | |
| HuBMAP ASCT+B Augmented with RNA-seq Coexpression | cell types associated with SLC4A1 gene from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. | |
| HuBMAP Azimuth Cell Type Annotations | cell types associated with SLC4A1 gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with SLC4A1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for SLC4A1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of SLC4A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of SLC4A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of SLC4A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| KEA Substrates of Kinases | kinases that phosphorylate SLC4A1 protein from the curated KEA Substrates of Kinases dataset. | |
| KEGG Pathways 2026 | pathways involving SLC4A1 protein from the KEGG Pathways 2026 dataset. | |
| Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate SLC4A1 protein from the Kinase Library Serine Threonine Atlas dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate SLC4A1 protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of SLC4A1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of SLC4A1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of SLC4A1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of SLC4A1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of SLC4A1 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of SLC4A1 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain SLC4A1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by SLC4A1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of SLC4A1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by SLC4A1 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
| MSigDB Cancer Gene Co-expression Modules | co-expressed genes for SLC4A1 from the MSigDB Cancer Gene Co-expression Modules dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of SLC4A1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| NURSA Protein Complexes | protein complexs containing SLC4A1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with SLC4A1 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for SLC4A1 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of SLC4A1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of SLC4A1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving SLC4A1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving SLC4A1 protein from the Wikipathways PFOCR 2024 dataset. | |
| Phosphosite Textmining Biological Term Annotations | biological terms co-occuring with SLC4A1 protein in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. | |
| PhosphoSitePlus Substrates of Kinases | kinases that phosphorylate SLC4A1 protein from the curated PhosphoSitePlus Substrates of Kinases dataset. | |
| Reactome Pathways 2014 | pathways involving SLC4A1 protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving SLC4A1 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of SLC4A1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at SLC4A1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of SLC4A1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of SLC4A1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of SLC4A1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of SLC4A1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of SLC4A1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of SLC4A1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of SLC4A1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of SLC4A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SLC4A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of SLC4A1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SLC4A1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with SLC4A1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with SLC4A1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2014 | pathways involving SLC4A1 protein from the Wikipathways Pathways 2014 dataset. | |