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FLASH GENE
Symbol EHD3 contributors: mct - updated : 08-12-2015
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
MAPPING cloned Y linked   status confirmed
Physical map
FOSL2 2p23-p22 FOS-like antigen 2 FLJ23306 2p23.3 hypothetical protein FLJ23306 LOC388937 2 similar to Phospholipase PLB PPP1CB 2p23 protein phosphatase 1, catalytic subunit, beta isoform SPY1 2p23.3 speedy FLJ20628 2p23.3 hypothetical protein FLJ20628 KIAA0007 2p23.3 KIAA0007 protein LOC388938 2 LOC388938 LOC165186 2p23.3 similar to RIKEN cDNA 4632412N22 gene LOC388939 2 similar to BC027072 protein FLJ21069 2p23.3 hypothetical protein FLJ21069 ALK 2p23 anaplastic lymphoma kinase (Ki-1) CGI-127 2p23.3 yippee protein LBH 2p23.3 likely ortholog of mouse limb-bud and heart gene FLJ37965 CAPN13 2p22-p21 likely ortholog of mouse limb-bud and heart gene GALNT14 2p23.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) EHD3 2p21.1 EH-domain containing 3 LOC391361 2 similar to ribosomal protein L21 XDH 2p23-p22.2 xanthine dehydrogenase SRD5A2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) LOC391362 2 similar to human alpha-catenin LOC339736 2p23.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CGI-27 2p23.2 C21orf19-like protein LOC84661 2p23.2 dpy-30-like protein SPG4 2p22-p21 spastic paraplegia 4 (autosomal dominant; spastin) SLC30A6 2p22.3 solute carrier family 30 (zinc transporter), member 6 RH-II/GuBp1 2p22-p21 RH-II/GuB pseudogene 1 CARD12 2p22-p21 caspase recruitment domain family, member 12 MGC11061 2p23.2 hypothetical protein MGC11061 BIRC6 2p22-p21 baculoviral IAP repeat-containing 6 (apollon) FLJ20272 2p23.2-p23.1 hypothetical protein FLJ20272 LOC391363 2 similar to Latent transforming growth factor beta binding protein, isoform 1L precursor (LTBP-1) (Transforming growth factor beta-1 binding protein 1) (TGF-beta1-BP-1) LTBP1 2p22-p21 latent transforming growth factor beta binding protein 1 RASGRP3 2p25.1-p24.1 RAS guanyl releasing protein 3 (calcium and DAG-regulated) DKFZP564F0522 2p23.1 DKFZP564F0522 protein LOC391364 2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC151325 2p23.1 similar to hypothetical protein BC013995 LOC344371 2p23.1 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2)
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
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   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