REPS1

Also known as RALBP1, RALBP1 associated Eps domain containing 1, NBIA7

RalBP1-associated Eps domain-containing protein 1 is a protein that in humans is encoded by the REPS1 gene.

Gene data

REPS1

Name: RALBP1 associated Eps domain containing 1
Type: protein-coding
Position: 138,903,493–138,988,354 (−)
Aliases: NBIA7
Ensembl: ENSG00000135597
RefSeq RNA: NM_001128617.3, NM_001286611.2, NM_001286612.2, NM_031922.5, XM_005267177.5
RefSeq protein: NP_001122089.1, NP_001273540.1, NP_001273541.1, NP_114128.3, XP_005267234.1

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]