Aliases for EHD1 Gene
External Ids for EHD1 Gene
Previous HGNC Symbols for EHD1 Gene
Previous GeneCards Identifiers for EHD1 Gene
This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
GeneCards Summary for EHD1 Gene
EHD1 (EH Domain Containing 1) is a Protein Coding gene. Diseases associated with EHD1 include Photoallergic Dermatitis and Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome. Among its related pathways are Regulation of CFTR activity (norm and CF) and Platelet activation, signaling and aggregation. GO annotations related to this gene include calcium ion binding and GTPase activity. An important paralog of this gene is ITSN1.
UniProtKB/Swiss-Prot for EHD1 Gene
ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Also plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis (PubMed:25686250).