Description

IPR009039 is a EAR.

<p>Most of the hereditary idiopathic epilepsies are due to mutation in ion channels expressed in brain. Recently two non-ion channel genes LGI1 and VGLR1 have emerged as important causes of specific epilepsy syndromes. The product of these two genes share a conserved repeated region of about 44 amino acid residues, the EAR domain (for epilepsy-associated repeat) [[cite:PUB00011794]].</p> <p>The predicted secondary structure (four β-strands) and the numbers of repeated copies (seven) suggest that the EAR domain belongs to the β-propeller fold. A common functional feature found in all characterised domains of this class is a participation in protein-protein interactions. Since the EAR repeat is found in the ectodomain of VLGR1, it is most probably involved in ligand recognition by the receptor [[cite:PUB00011794]].</p> <p>Proteins known to contain EAR repeats are listed below:</p> <ul> <li>Mammalian LGI1 to LGI4. LGI1 is mutated in autosomal dominant partial epilepsy with auditory features (ADPEAF). The F348C missense mutation is located in the third EAR repeat (7 copies).</li> <li>Mammalian thrombo-spondin N-terminal domain and EAR repeats containg protein (TSPEAR) (7 copies).</li> <li>Mammalian very large G protein-coupled receptor 1 (VGLR1) or monogenic audiogenic seizure-susceptible (MASS1) protein. In mouse, mutations in MASS1 gene are associated with generalized epilepsy and seizures in response to loud noises (7 copies) [[cite:PUB00011796]].</li></ul>

This description is obtained from EB-eye REST.

Associated GO terms

Unable to find any GO terms for the transcript with the identifier.

Associated Lotus transcripts 2

Co-occuring domains 1

A list of co-occurring predicted domains within the L. japonicus gene space: