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FLASH GENE
Symbol HEG1 contributors: mct - updated : 29-05-2016
HGNC name HEG homolog 1 (zebrafish)
HGNC id 29227
Location 3q21.2      Physical location : 124.684.554 - 124.774.802
Genatlas name heart of glass 1
Synonym name
  • protein with EGF like domain
  • KIAA1237 protein
  • Synonym symbol(s) KIAA1237, HEG, MST112, MSTP112
    DNA
    TYPE functioning gene
    STRUCTURE 90.25 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 9156 - 1381 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Lymphoid/Immunespleen    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver and brain highly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • endocardial signal that is vital for patterning concentric growth of the heart
  • HEG1, a transmembrane receptor, and RASIP1, an endothelial-specific RAP1A-binding protein, are both essential for cardiovascular development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component HEG1-KRIT1 protein signaling as a crucial regulator of heart and vessel formation and integrity
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HEG1 binds in a hydrophobic pocket at the KRIT1 F1 and F3 interface, and there is no overlap with the RAP1A-binding site
  • HEG1 binds directly to RASIP1 (RASIP1 localizes to forming endothelial cell (EC) cell-cell junctions and silencing HEG1 prevents this localization)
  • binding of HEG1 to RASIP1 mediates RAP1A-dependent recruitment of RASIP1 to and stabilization of EC cell-cell junctions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Heg1(-/-) mice showed defective integrity of the heart, blood vessels and lymphatic vessels