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FLASH GENE
Symbol HEG1 contributors: mct - updated : 29-05-2016
HGNC name HEG homolog 1 (zebrafish)
HGNC id 29227
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