|HGNC Description:||solute carrier family 4 (anion exchanger), member 1|
|Chromosome:||Chr.17(-): 42325758-42351654 GRCh37|
|OMIM Phenotype:||Band 3 memphis; Ovalocytosis, southeast asian; Spherocytosis, hereditarty, due to band 3 tuscaloosa; Hemolytic anemia due to band 3 montefiore; Spherocytosis, hereditary, due to band 3 pargue; Spherocytosis, hereditary, due to band 3 chur; Spherocytosis,|
|Evidence:||Substrate In Vitro Evidence: SLC4A1 is probably a multifunctional transport protein responsible for transport of glucose, anions (Cl-/HCO3-), Sulfate and water. (extracts of erythrocyte membranes, xenopus oocytes, reconstituted proteoliposomes) Langdon, R. G.; Holman, V. P. Immunological evidence that band 3 is the major glucose transporter of the human erythrocyte membrane. Biochim. Biophys. Acta 945: 23-32, 1988. Bruce LJ, Pan RJ, Cope DL, Uchikawa M, Gunn RB, Cherry RJ, Tanner MJ. Altered structure and anion transport properties of band 3 (AE1, SLC4A1) in human red cells lacking glycophorin A. J Biol Chem 279:2414-20, 2004. Guizouarn H, Musch MW, Goldstein L. Evidence for the presence of three different anion exchangers in a red cell. Functional expression studies in Xenopus oocytes. J Membr Biol 193:109-20, 2003. Sekler I, Lo RS, Mastrocola T, Kopito RR. Sulfate transport mediated by the mammalian anion exchangers in reconstituted proteoliposomes. J Biol Chem 270:11251-6, 1995. Substrate In Vivo Evidence: SLC4A1 is very important in determining red cell homeostasis and cell shape. Its genetic variation is involved in erythrocyte and kidney disorders such as hereditary spherocytosis and distal renal tubular acidosis (Genetic deficiency in cattle, knockout mice, Zebrafish mutant) Inaba, M.; Yawata, A.; Koshino, I.; Sato, K.; Takeuchi, M.; Takakuwa, Y.; Manno, S.; Yawata, Y.; Kanzaki, A.; Sakai, J.; Ban, A.; Ono, K.; Maede, Y. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J. Clin. Invest. 97: 1804-1817, 1996 Southgate, C. D.; Chisti, A. H.; Mitchell, B.; Yi, S. J.; Palek, J. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nature Genet. 14: 227-230, 1996. Peters, L. L.; Shivdasani, R. A.; Liu, S.-C.; Hanspal, M.; John, K. M.; Gonzalez, J. M.; Brugnara, C.; Gwynn, B.; Mohandas, N.; Alper, S. L.; Orkin, S. H.; Lux, S. E. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86: 917-927, 1996. Paw, B. H.; Davidson, A. J.; Zhou, Y.; Li, R.; Pratt, S. J.; Lee, C.; Trede, N. S.; Brownlie, A.; Donovan, A.; Liao, E. C.; Ziai, J. M.; Drejer, A. H.; et al. Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Nature Genet. 34: 59-64, 2003. Tissue Distribution Evidence: SLC4A1 is considered to be the unique anion exchanger expressed in erythrocytes. In rats, SLC4A1 mRNAs were observed in many tissues but high levels of expression occurred only in spleen and kidney. Five transcripts, ranging in size from 3.6 to 4.9 kilobases, were detected, including three that are expressed in heart. (Northern blotting) Kudrycki, K. E.; Newman, P. R.; Schull, G. E. cDNA cloning and tissue distribution of mRNAs for two proteins that are related to the band 3 chloride-bicarbonate exchanger. J. Biol. Chem. 265: 462-471, 1990.|
|Tissues:||erythrocytes; other tissues including heart, spleen and kidney|
|Substrates:||glucose, anions (Cl-/HCO3-), Sulfate and water|
|Trivial Names:||DI, FR, SW, WD, WR, AE1, WD1, BND3, EPB3, CD233, EMPB3, RTA1A|
|Transcripts:||NM_000342.3 [Chr.17(-): 42325758-42345502 GRCh37]|
XM_005257592.1 [Chr.17(-): 42327465-42351654 GRCh37]
XM_005257593.1 [Chr.17(-): 42327465-42339424 GRCh37]
|ENST00000262418 [Chr.17(-): 42325753-42345509 GRCh37]|
ENST00000471005 [Chr.17(-): 42337772-42339434 GRCh37]
ENST00000497360 [Chr.17(-): 42334561-42345492 GRCh37]
ENST00000498270 [Chr.17(-): 42338173-42345509 GRCh37]
|Annotation History:||View Events (20)|
GTEx Expression by Gene and Transcript
The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.