Aliases for REPS1 Gene
External Ids for REPS1 Gene
Previous GeneCards Identifiers for REPS1 Gene
This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
GeneCards Summary for REPS1 Gene
REPS1 (RALBP1 Associated Eps Domain Containing 1) is a Protein Coding gene. Diseases associated with REPS1 include Neurodegeneration With Brain Iron Accumulation 7 and Neurodegeneration With Brain Iron Accumulation. Among its related pathways are Clathrin-mediated endocytosis and Cytoskeleton remodeling_RalA regulation pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is REPS2.
UniProtKB/Swiss-Prot Summary for REPS1 Gene
May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.