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FLASH GENE
Symbol EPB41L1 contributors: mct - updated : 19-10-2015
HGNC name erythrocyte membrane protein band 4.1-like 1
HGNC id 3378
Corresponding disease
MRD11 mental retardation, autosomal dominant 11
Location 20q11.23      Physical location : 34.700.347 - 34.820.720
Synonym name
  • cDNA sequence,expressed in brain, >100kDa, related to 4.1 band 4.1
  • neuron-type nonerythroid protein 4.1
  • neuronal protein 4.1
    • Synonym symbol(s) KIAA0338, 4.1N, MRD11
    DNA
    TYPE functioning gene
    STRUCTURE 167.91 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • alternative first exons far upstream first exons
  • exon 15 strongly included in brain but mainly excluded in all other tissues
    • MAPPING cloned Y linked N status provisional
    Map cen - D20S106 - EPB41L1 - D20S206 - qter
    Authors Kim (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 6276 - 881 - 2009 19503082
    20 - 5967 - 779 - 2009 19503082
    20 - 5972 - 779 - 2009 19503082
    21 - 5745 - 701 - 2009 19503082
    23 - 6327 - 880 - 2009 19503082
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Hearing/Equilibriumear   highly
    Nervousbrain   highly
    Reproductivefemale systemovary  highly
    Urinarykidney     Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal (EPB41, ezrin, radixin, moesin) domain cysteine-rich, basic charged globular module, a FERM domain
  • a spectrin-actin binding domain (SABD) domain
  • a conserved C terminus
    • HOMOLOGY
    interspecies homolog to murine Epb41l1
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • EPB41L1, like EPB41, was present in intercalated discs, but unlike EPB41, it was not localised at the lateral plasma membrane
    • basic FUNCTION
  • multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane
  • required for activity-dependent GRIA1 insertion, and disrupting EPB41L1-dependent GRIA1 insertion decreased surface expression of GRIA1 and the expression of long-term potentiation
  • ITPR1 localization, via protein EPB41L1, is necessary for Ca(2+) wave formation, which in turn mediates neurite formation (pMID: 21389686)
  • EPB41, EPB41L1, EPB41L2 proteins are differentially compartmentalised in the heart, and they form specific complexes with proteins central to cardiomyocyte Ca(2+) metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CASK in neuronal tissues
  • GRIK1, GRIK2, interact with the spectrin-actin binding scaffolding protein EPB41L1 through a membrane-proximal domain in the C-terminal tail
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS