EHD1
Description
The EHD1 (EH domain containing 1) is a protein-coding gene located on chromosome 11.
EHD1, also known as Testilin or PAST homolog 1 (PAST1), is a protein encoded by the EHD1 gene in humans. It belongs to the EHD protein family, characterized by the presence of an EPS15 homology (EH) domain, a motif crucial for protein-protein interactions and intracellular sorting. EHD1 is involved in the endocytosis of IGF1 receptors and interacts with the Insulin-like growth factor 1 receptor and SNAP29.
EHD1 is an ATP- and membrane-binding protein that controls membrane reorganization and tubulation upon ATP hydrolysis. It causes vesiculation of endocytic membranes in vitro and participates in early endocytic membrane fusion and membrane trafficking of recycling endosomes. EHD1 is recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulating neurite outgrowth. It plays a role in myoblast fusion and is involved in the unidirectional retrograde dendritic transport of endocytosed BACE1, facilitating its efficient sorting to axons, suggesting a role in neuronal APP processing. EHD1 is crucial for the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. It is thought to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting the SNARE complex component SNAP29. EHD1 is essential for the recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67, and B9D2, as well as IFT20, following DAV reorganization before Rab8-dependent ciliary membrane extension. It is required for the loss of CCP110 from the mother centriole, a critical step in the maturation of the basal body during ciliogenesis.
EHD1 is also known as H-PAST, HPAST1, PAST, PAST1.
Associated Diseases
- ovarian cancer
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failures 50
- spermatogenic failure, X-linked, 2
- spermatogenic failure 25
- spermatogenic failure 63
- isochromosomy Yp
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
- isochromosomy Yq
- ring chromosome Y
- spermatogenic failure 44
- spermatogenic failure 65
- congenital bilateral absence of vas deferens
- spermatogenic failure 48
