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FLASH GENE
Symbol EHD3 contributors: mct - updated : 08-12-2018
HGNC name EH-domain containing 3
HGNC id 3244
Location 2p23.1      Physical location : 31.456.879 - 31.491.259
Synonym name EPS15 homology (EH) domain family member 3
Synonym symbol(s) PAST3, EHD2
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 34.06 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • activity of the EHD3 promoter was positively regulated by NR5A1, which occupied the conserved sequence "AGGTCA" in the EHD3 promoter
  • MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3906 - 535 - 2007 17507647
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunelymph node   highly
    Urinarykidneynephronrenal capsuleglomerulusmoderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an EPS15 (EH) protein binding domain
  • an EF hand (Ca2+ binding) motif at C terminus
  • HOMOLOGY
    interspecies ortholog to rattus Ehd3
    intraspecies paralog to EHD1, EHD2, EHD4
    Homologene
    FAMILY
  • Eps15 homology domain-containing protein family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • EHD1 and EHD3 localize to preciliary membranes and the ciliary pocket
  • resides in tubular and vesicular membrane structures and participates in endocytic recycling
  • basic FUNCTION
  • participating in the clathrin-mediated endocytic machinery
  • also potentially involved in signal transduction pathways, downsteam of receptor tyrosine kinases
  • regulates microtubule-dependent movements of endocytic tubular ans vesicular structures
  • having a function in early endosome to endocytic recycling compartment transport
  • regulates transport from the early endosome to the recycling endosome (George 2007)
  • colocalize with vesicular and tubular structures, implying roles in transport processes and cytoskeletal dynamics and interact with specific phospholipids (Blume 2007)
  • role for EHD3 in regulating endosome-to-Golgi transport, and as a consequence, lysosomal biosynthetic, but not secretory, transport pathways are also affected
  • critical mediator of membrane protein trafficking in the heart
  • is a previously unrecognized component of the cardiac remodeling pathway
  • the functions of both EHD1 and EHD4 are primarily in tubular recycling endosomes (TREs) membrane vesiculation, whereas EHD3 is a membrane-tubulating protein
  • functions as a tumor suppressor gene and loss of its expression is a very common event in gliomas
  • is a critical component of protein trafficking in heart and is essential for the proper membrane targeting of select cellular proteins that maintain excitability
  • EHD1 and EHD3 reorganize the M-centriole and associated distal appendage vesicles (DAVs) before coordinated ciliary membrane and axoneme growth
  • CACNA1G, CACNA1H are substrates for EHD3-dependent protein trafficking in heart, implicating EHD3 as a key player in the regulation of atrial myocyte excitability and cardiac conduction
  • EHD1 and EHD3 control traffic to the endocytic recycling compartment (ERC) and from the ERC to the plasma membrane, while EHD2 modulates internalization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP/GTP binding
  • ions Ca2+ binding
  • protein
  • associating with the AP2 adaptor protein complex to initiate endocytic vesicle formation
  • interacting with EHD1
  • interacting with SNAP29
  • cell & other
    REGULATION
    Other SUMOylation of EHD3 is involved in tubulation of the ERC membranes, which is important for efficient recycling
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in gliomas, including low-grade astrocytomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS