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FLASH GENE
Symbol EPB41 contributors: mct - updated : 13-09-2016
HGNC name erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
HGNC id 3377
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal FERM (EPB41, ezrin, radixin, moesin) domain cysteine-rich, basic charged globular module, interacting with MPP1
  • a spectrin-actin-binding domain (SABD)
  • a glycophorin/calmodulin binding domain
  • a C terminal region
  • a spectrin-actin-binding domain
  • a protein-saccharide modification structure
  • a nuclear localization signal (NLS)
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • ezrin/moesin/radixin-like (ERM) family
  • protein 4.1 family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • localizes at centrosomes to distal/subdistal regions of mature centrioles in a cell cycle-dependent pattern
  • present in subcellular fractions enriched in intercalated discs, in a complex resistant to solubilization under non-denaturing conditions
  • basic FUNCTION
  • critical for the membrane-associated cytoskeleton structure of erythocytes, playing a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction
  • regulating in central neurons, the stabilization of AMPA receptors on the neuronal surface at the postsynaptic density
  • responding and participating in reorganization of membrane-cytoplasmic interactions
  • makes crucial contributions to the structural integrity of centrosomes and mitotic spindles which normally enable mitosis and anaphase to proceed with the coordinated precision required to avoid pathological events
  • promote the mechanical stability of plasma membranes by interaction with the cytoskeletal proteins spectrin and actin and required for the cell surface expression of a number of transmembrane proteins
  • role in modulating the functional properties of several cardiac ion transporters with consequences on cardiac electrophysiology and with possible significant roles during normal cardiac function and disease
  • its expression involves transcriptional regulation coupled with a complex splicing regulatory network
  • required for the stable cell surface accumulation of a number of erythrocyte membrane proteins
  • have roles in the accumulation of at least three classes of ion channel
  • EPB41, EPB41L1, EPB41L2 proteins are differentially compartmentalised in the heart, and they form specific complexes with proteins central to cardiomyocyte Ca(2+) metabolism
  • regulates SLC9A1 activity through a direct protein-protein interaction that can be modulated by intracellular pH and Na(+) and Ca(2+) concentrations
  • adapter that link actin-based cytoskeleton to plasma membrane proteins
  • component of cell membrane cytoskeleton, that plays a part in erythrocyte shape and deformability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex tissue-specific and developmentally regulated erythroid and non erythroid expression pattern
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FKBP2
  • binding F-actin to spectrin dimers
  • binding CNTNAP1 and CNTNAP2
  • interacting with actin and bind to the N-terminal region (residues 1-301) of the spectrin beta chain, to the separate CH1 and CH2 domains
  • interacting through te FERM domain with MPP1 (binds to a 51-AAs peptide, encoded by exon 10, located within the FERM domain of EPB41)
  • in epithelia, interacts with the store-operated channel TRPC4
  • binds directly to the SLC9A1cd (cytoplasmic domain of SLC9Q1) through the interaction of an EED motif in the EPB41 FERM (4.1/ezrin/radixin/moesin) domain
  • functional role for EPB41 in small intestinal calcium absorption through regulation of membrane expression of PMCA1
  • role for the scaffolding protein EPB41 in locally controlling CLASP2 behavior, CLASP2 cortical platform turnover and GSK3 activity, enabling correct microtubule organization and dynamics essential for cell polarity
  • NUMA1 anaphase localization is independent of GPSM2 and EPB41 interactions, revealing two distinct mechanisms responsible for NUMA1 cortical recruitment at different stages of mitosis
  • cell & other
    REGULATION
    Other developmentally regulated
    ASSOCIATED DISORDERS
    corresponding disease(s) EL1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in neuroblastoma
    tumoral     --low  
    in sporadic meningioma
    tumoral     --low  
    in hepatocellular carcinoma
    Susceptibility
  • to mandibular prognathism (MP)
  • to hepatocellular carcinoma
  • Variant & Polymorphism other
  • Four SNPs located in the EPB41 gene showed possible allelic and genotypic associations with MP
  • SNP, rs157224G>T, associated to risk of hepatocellular carcinoma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS