REPS1 (Entrez ID: 85021)

Entrez Gene ID 85021
Official Gene Symbol REPS1 (GeneCards)
Full name RALBP1 associated Eps domain containing 1
Location 6q24.1
Other ids Vega : OTTHUMG00000015685
MIM : 614825
HGNC : HGNC:15578
Ensembl : ENSG00000135597
Other names 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]

Variants

Found 3 variants in this database.