DISEASES

Disease-gene associations mined from literature

Literature on EHD3

EHD3 [ENSP00000327116]

EH domain-containing protein 3; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis . In vitro causes tubulation of endocytic membranes . Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor . Plays a role in cardiac protein trafficking probably implicating ANK2 . Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance . Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 . ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:19139087, ECO:0000269|PubMed:21791287, ECO:0000269|PubMed:23781025, ECO:0000269|PubMed:24019528, ECO:0000269|PubMed:25686250,

Synonyms:  EHD3,  EHD3p,  hEHD3,  Q9NZN3,  Q9NZN3p ...

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