Solute Carrier Family 4 (Anion Exchanger), Member 1

Alternative Names

  • SLC4A1
  • Band 3 of Red Cell Membrane
  • BND3
  • Erythrocyte Membrane Protein Band 3
  • EMPB3
  • Erythroid Protein Band 3
  • EPB3
  • Anion Exchange Protein 1
  • AE1
  • Acanthocytosis, one form of
  • Ovalocytosis, Malaysian-Melanesian-Filipino Type
  • Ovalocytosis, Southeast Asian
  • SAO
  • Elliptocytosis 4
  • EL4
  • Elliptocytosis, Stomatocytic Hereditary
  • HE, Stomatocytic
Back to search Result
OMIM Number

109270

NCBI Gene ID

6521

Uniprot ID

P02730

Length

19,772 bases

No. of Exons

21

No. of isoforms

2

Protein Name

Band 3 Anion Transport Protein

Molecular Mass

101792 Da

Amino Acid Count

911

Genomic Location

chr17:44,248,389-44,268,160

Gene Map Locus
17q21.31

Description

SLC4A1 gene is part of the anion-exchanger (AE) family. The gene encodes two AE1 isoforms (also called band 3): erythroid (eAE1) and renal (rAE1). These isoforms are expressed in the erythrocyte plasma membrane, which function as chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The eAE1 isoform is a glycoprotein consisting of 911 amino acids and has three domains: the N-terminal cytoplasmic domain (containing the binding sites for hemoglobin and some cytosolic enzymes), which acts as a membrane anchorage site for the red cell skeleton, the transmembrane domain, which is responsible for Cl-/HCO3- exchange; and a short cytoplasmic C-terminal domain, containing binding sites for carbonic anhydrase II. The rAE1 isoform is transcribed from the second promoter in intron 3, and lacks the first 65 amino acids of the N-terminal domain. Defects in this protein are the cause of an autosomal recessive disease called Renal Tubular Acidosis, Distal, with Hemolytic Anemia (dRTA-HA), characterized by the association of hemolytic anemia with distal renal tubular acidosis, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis, caused by reducing the ability to acidify urine.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000342.4:c.1199_1225delComoroschr17:44258044-44258070Pathogenic,ProtectiveSickle Cell Anemia; Ovalocytosis, Southeast AsianNG_007498.1:g.15066_15092del; NM_000342.4:c.1199_1225del; NP_000333.1:p.Ala400_Ala408del76966422817753
NM_000342.4:c.2573C>AOmanchr17:44251241Pathogenic,Uncertain SignificanceRenal Tubular Acidosis, Distal, with Hemolytic AnemiaNG_007498.1:g.21894C>A; NM_000342.4:c.2573C>A; NP_000333.1:p.Ala858Asp12191275117771
© CAGS 2020. All rights reserved.