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band 3 anion transport protein; anion exchange protein 1; anion exchanger 1; AE 1; solute carrier family 4 member 1; CD233 (SLC4A1, AE1, DI, EPB3)

Band # from SDS gel of erythrocyte ghosts. Function: - Cl-/HCO3- exchange - the major integral glycoprotein of the erythrocyte membrane - two functional domains a) integral domain mediates a 1:1 exchange of inorganic anions across the membrane, i.e. b) cytoplasmic domain provides binding sites for cytoskeletal proteins, glycolytic enzymes, & hemoglobin - phosphorylated on Tyr-8 & Tyr-21 most likely by SYK - PP1- resistant phosphorylation that precedes Tyr-359 & Tyr-904 phosphorylation - phosphorylated on Tyr-359 & Tyr-904 most likely by LYN - PP1-inhibited phosphorylation that follows Tyr-8 & Tyr-21 phosphorylation - phenyl isothiocyanate inhibits anion transport in vitro Structure: - a dimer in solution - spans the membrane asymmetrically - appears to be tetrameric - belongs to the anion exchanger (TC 2.A.31) family Compartment: membrane Expression: erythrocytes Polymorphism: - SLC4A1 is responsible for 3 blood groups a) Diego blood group b) Swann blood group (SW) c) Froese blood group Pathology: - defects in SLC4A1 are the cause of: a) elliptocytosis type 4 b) autosomal dominant distal renal tubular acidosis c) autosomal recessive distal renal tubular acidosis - defects in SLC4A1 are a cause of - hereditary spherocytosis Laboratory: - anion exchanger 1 Ag in tissue [8]

General

anion exchange protein cluster-of-differentiation antigen; cluster designation antigen; CD antigen Cl- channel glycoprotein PEST protein plasma membrane protein solute carrier family 4 (SLC4, SLC4A)

Properties

SIZE: entity length = 911 aa MW = 102 kD COMPARTMENT: plasma membrane CELL: erythrocyte MOTIF: cytoplasmic domain {1-403} MOTIF: acetylation site SITE: N-TERMINUS EFFECTOR-BOUND: acetyl Tyr phosphorylation site {Y8} Tyr phosphorylation site {Y21} Tyr phosphorylation site {Y46} Ser phosphorylation site {S350} Tyr phosphorylation site {Y359} transmembrane domain {404-424} exoplasmic loop {425-436} transmembrane domain {437-456} cytoplasmic loop {457-459} transmembrane domain {460-479} exoplasmic loop {480-490} transmembrane domain {491-510} cytoplasmic loop {511-522} transmembrane domain {523-541} exoplasmic loop {542-568} transmembrane domain {569-588} cytoplasmic loop {589-603} MOTIF: lysine residue {590} transmembrane domain {604-624} exoplasmic loop {625-660} MOTIF: N-glycosylation site {N642} transmembrane domain {661-680} cytoplasmic loop {681-698} MOTIF: glutamate residue {681} transmembrane domain {699-719} exoplasmic loop {720-762} transmembrane domain {763-780} cytoplasmic loop {781-784} transmembrane domain {785-806} exoplasmic loop {807-843} MOTIF: cysteine residue {C843} MODIFICATION: palmitate COMPARTMENT: membrane transmembrane domain {844-865} cytoplasmic domain {866-911} MOTIF: Tyr phosphorylation site {Y904} ION-PERMEABILITY: Cl-

Database Correlations

OMIM correlations MORBIDMAP 109270 UniProt P02730 PFAM correlations Entrez Gene 6521 Kegg hsa:6521

References

  1. Alperts et al Molecular Biology of the Cell, Garland Publishing, New York, NY 1989 pg 289-291
  2. Wang KK et al Calmodulin-binding proteins as calpain substrates. Biochem J 262:693 1989 PMID: 2556106
  3. UniProt :accession P02730
  4. Wikipedia; Note: Band 3 entry http://en.wikipedia.org/wiki/Band_3
  5. BGMUT; Note: Blood group antigen gene mutation database http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/systems_info&system=diego
  6. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC4A1
  7. SeattleSNPs http://pga.gs.washington.edu/data/slc4a1/
  8. Loinc