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FLASH GENE
Symbol SLC4A1 contributors: mct/npt - updated : 31-08-2012
HGNC name solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
HGNC id 11027
Corresponding disease
BGW blood group--Waldner type
DI Diego blood group
DRTAA renal tubular acidosis, distal
EL4 hereditary elliptocytosis, 4
HHST2 hereditary hydrocytosis 2
SPH4 hereditary spherocytosis, type V
Location 17q21.31      Physical location : 42.325.758 - 42.345.502
Synonym name
  • erythroid anion (CL-/HCO3-) exchange protein AE1, band 3
  • chloride-bicarbonate exchanger
  • Waldner blood group
  • Wright blood group
  • Swann blood group
  • Froese blood group
  • CD233 antigen
  • anion exchange protein 1
  • kidney anion exchanger 1
  • band 3
  • Synonym symbol(s) AE1, EPB3, BND3, CD233, EMPB3, RTA1A, MGC116753, MGC126619, DI, FR, SW, WD, WR, WD1, BND3, MGC116750, MGC126623, KAE1
    DNA
    TYPE functioning gene
    STRUCTURE 18.42 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 4953 102 911 - Pang (2008)
    - - - - 846 in the kidney PMID: 18358003
  • truncated form of erythroid SLC4A1 missing the first 65 AAs of the N-terminal cytosolic domain, which includes a disordered acidic region (AAs 1-54) and the first beta-strand (AAs 55-65) of the folded region
  • does not bind deoxyhemoglobin, glycolytic enzymes, or cytoskeletal components
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart    
    Digestiveliver    
    Urinarykidneytubulecollecting duct highly Homo sapiens
     kidneynephron    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text spleen
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • lacks the N-terminal 65 AAs of the erythroid form (AE1, band 3), which are essential for binding of cytoskeletal and cytosolic proteins
  • 13 transmembrane (13TM) segments
  • an N-terminal cytoplasmic domain that interacts with the cytoskeleton, and intracellular N terminal including binding sites for hemoglobin, EPB41 and other proteins
  • an ankyrin-binding site located near the deoxyHb (deoxygenated haemoglobin)-binding site
  • a C cytoplasmic terminal forming the exchange channel, transmembrane domain that transports anions independently, and implicated in the anion translocation process
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • solute carrier family 4, chloride-bicarbonate
  • anion exchanger family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • expressed in the cilia and may support Cl(-) accumulation
  • integral membrane protein linked to the spectrin/actin cytoskeleton
  • basic FUNCTION
  • anion exchange across the basolateral surface
  • mediating electroneutral chloride/bicarbonate exchange
  • plays an important role in transcellular bicarbonate absorption
  • major anion transport protein of erythrocytes, that forms the core of a multiprotein complex in the erythrocyte membrane
  • ANK1/SLC4A1 complex plays critical roles in bridging spectrin/actin cytoskeleton to the cell surface lipid membrane and serving as a docking site for multiple membrane/cytoskeleton proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • ANK1/SLC4A1 complex connects the spectrin-based skeleton to the plasma membrane and helps maintain the vertical and horizontal integrities of the mature erythrocyte
  • SLC4A1 and GYPA form a complex in the ER of human K562 cells, but that both proteins can also traffic to the cell surface independently of each other
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • anchor protein and target for PTPN11 in erythrocytes
  • forming the scaffold for a protein assembly that could transduce signals from the cell exterior and modulate the transport and mechanical properties of the erythrocyte
  • GYPA is a sialoglycoprotein that associates with SLC4A1 in erythrocytes forming the Wrb (Wright b) blood group antigen
  • interacts with nephrin and ILK to maintain the structure and function of the glomerular basement membrane
  • interacting with AP1M1 (AP1M1 is involved in the SLC4A1 trafficking of kidney alpha-intercalated cells)
  • interacts with KIF3B in the kidney tissue a dileucine motif at the C-terminal SLC4A1 contributes to its interaction with KIF3B)
  • preferentially binds deoxygenated haemoglobin at its N-terminus, and has been postulated to participate in the mechanism by which oxygenation controls cellular processes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EL4 , DRTAA , HHST2 , SPH4 , BGW , DI
    related resource Blood Group Antigen Mutation Database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS