REPS1, Official Symbol REPS1provided by HGNC Official Full Name RALBP1 associated Eps domain containing 1provided by HGNC Primary source HGNC:HGNC:15578 See related Ensembl:ENSG00000135597 MIM:614825; AllianceGenome:HGNC:15578 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all