REPS1 RALBP1 associated Eps domain containing 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 85021)
Symbol: REPS1
Full name: RALBP1 associated Eps domain containing 1
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: NBIA7; RALBP1
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 17.4), skin (RPKM 9.2) and 25 other tissues
Orthologs: mouse
Gene size: 84761bp
Exon count: 21