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FLASH GENE
Symbol SLC4A1 contributors: mct/npt - updated : 31-08-2017
HGNC name solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
HGNC id 11027
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
  • DPP4, AGTR2, SLC4A1, KREMEN1, ASGR1, ANP, TMEM30A, CLEC4G, and LDLRAD3, along with ACE2 facilitate SARS-CoV-2. virus entry and transmission
    • 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