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FLASH GENE
Symbol EPB41L3 contributors: mct - updated : 09-09-2011
HGNC name erythrocyte membrane protein band 4.1-like 3
HGNC id 3380
Location 18p11.31      Physical location : 5.392.387 - 5.543.986
Synonym name
  • differentially expressed in adenocarcinoma of the lung protein
  • band 4.1-like protein 3
  • Synonym symbol(s) DAL1, 4.1B, KIAA0987, E4L3, DAL-1
    DNA
    TYPE functioning gene
    STRUCTURE 151.60 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • two transcriptional promoters at far upstream alternative exons 1A and 1B, and show that their respective transcripts splice differentially to exon 2'/2 in a manner that determines mRNA coding capacity
  • exon 17D included only in the brain
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - 108 - predominantly in kidney Gascard (2004)
    also called 4.1B Ia
    23 - 4446 125 1087 predominantly in brain Gascard (2004)
    also called 4.1B Ib
    - - - 200 - - 2009 19299464
  • may have an essential role in maintaining the structure of the Golgi and in assembly of a subset of membrane proteins
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   lowly
     liver    
    Nervousbrain   highly
    Reproductivefemale systemovary  moderately Homo sapiens
     male systemtestis  lowly
    Urinarykidney     Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • a N terminal membrane FERM domain (residues 110391)
  • a hydrophilic FERM adjacent domain (residues 394513), interacting with the cytoplasmic domain of glycophorin C
  • a spectrin and actin binding domain (residues 514860)
  • a conserved C terminus
  • HOMOLOGY
    interspecies homolog to Drosophila 4-1
    intraspecies homolog to merlin
    Homologene
    FAMILY
  • protein 4-1 family
  • CATEGORY structural protein , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • critical growth regulator in the pathogenesis of meningioma
  • playing a critical role in the suppression of lung tumor formation and metastasis
  • anchoring these axonal proteins (CNTNAP1, CNTNAP2) to the actin-based cytoskeleton in central and peripheral myelinated axons
  • play a role in cell adhesion and the structure and regulation of the membrane skeleton
  • cascade of CADM4 and EPB41L3 plays an important role in normal cell adhesion of the proximal tubules
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a tripartite protein complex with CADM1 and MPP1, MPP2, MPP3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding CNTNAP1, CNTNAP2
  • interacting with MPP1, MPP2, MPP3, and with CADM1 mainly through PDZ-binding motif of CADM1 and the core region of FERM domain in EPB41L3, respectively (Sakurai-Yageta (2009)
  • CADM1 recruits NMDA receptors via protein EPB41L3
  • binds to CADM1 through conserved residues in a well defined hydrophobic pocket in the structural C-lobe of the EPB41L3 FERM domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    differentially expressed in adenocarcinoma of the lung and in meningioma atypical or anaplastic (sporadic)
    tumoral     --low  
    in meningioma
    tumoral   LOH    
    in breast cancer in progression
    tumoral        
    extensively methylated in ovarian cancer cell lines and primary ovarian tumors compared with normal tissues
    Susceptibility to meningioma
    Variant & Polymorphism other low mutational frequency in the neoplastic transformation of meningiomas, and other inactivating mechanisms, such as epigenetic changes, may participate in EPB41L3 silencing
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    target for prostate cancer therapy
    cancerreproductiveovary
    reexpression of EPB41L3 induces extensive apoptotic cell death in ovarian cancers
    ANIMAL & CELL MODELS