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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
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