Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EPB41L1 contributors: mct - updated : 19-10-2015
HGNC name erythrocyte membrane protein band 4.1-like 1
HGNC id 3378
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