Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PLEKHA7 contributors: mct/pgu - updated : 14-01-2015
HGNC name pleckstrin homology domain containing, family A member 7
HGNC id 27049
Location 11p15.1      Physical location : 16.809.211 - 17.035.963
Synonym name
  • PH domain-containing family A member 7
  • pleckstrin homolgy domain containing, family A member 2
  • Synonym symbol(s) DKFZp686M22243
    DNA
    TYPE functioning gene
    STRUCTURE 226.75 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 4848 127 1121 - 2008 19041755
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon   Homo sapiens
     liver     Homo sapiens
     mouthpalate  highly Homo sapiensFetal
    Endocrinepancreas     Homo sapiens
     thyroid   highly
    Urinarykidney   highly Homo sapiens
    Visualeyeanterior segmentcornea   Homo sapiens
     eyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier lining    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two WW domains
  • a PH (pleckstrin homology)domain,
  • a CC (coiled-coil) domain
  • a portion from AA 538 to 696 required for its binding to CTNND1
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Plekha7 (89.1pc)
    Homologene
    FAMILY
  • pleckstrin homology domain, family A
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • localized to cell-cell junctions in Caco2 cells and colocalized with zonula adherens
  • CGN, CGNL1 and PLEKHA7 are proteins localized in the cytoplasmic region of the apical junctional complex of vertebrate epithelial cells
  • basic FUNCTION
  • PLEKHA7/NEZHA complex regulates the zonula adherens integrity by recruiting KIFC3 to this junctional site
  • specifically important for the cadherin-catenin accumulation at the zonula adherens
  • cytoplasmic component of the epithelial adherens junction belt, with a subcellular localization and tissue distribution that is distinct from that of TJP1 and most adherens junctions proteins
  • TJP1 and PLEKHA7 are paracingulin-interacting proteins that are involved in its recruitment to epithelial tight and adherens junctions, respectively
  • PLEKHA7, together with CNGL1, is part of a protein complex that links CDH1 to the microtubule cytoskeleton at AJs
  • plays a cooperative role with nectin and MLLT4 in the proper formation of AJ (Adherens Junction) in epithelial cells
  • likely PLEKHA7 regulates at least partly the association of the nectin-afadin and cadherin-catenin systems
  • the role for PLEKHA7 in the proper formation of AJ may contribute to the formation of AJ specifically in epithelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • zonula adherens component
  • CGNL1 forms a complex with PLEKHA7 and its interacting partner CTNND1, and the globular head domain of paracingulin interacts directly with a central region of PLEKHA7
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • partner for NEZHA
  • associated with the E-cadherin-catenin complex via CTNND1
  • interacting with KIAA1543
  • TJP1 and the adherens junction protein PLEKHA7 as paracingulin-binding proteins
  • PLEKHA7 binds to MLLT4 and this binding is required for the proper formation of adherens junction (AJ)
  • PLEKHA7 bound to AFDN in addition to CTNND1 and was associated with nectin by binding to AFDN
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate (NS-CL/P)
    Variant & Polymorphism other
  • pathogenic variants identified in PLEKHA7 in cases of NS-CL/P
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS