REPS1

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]

Full Name

RALBP1 Associated Eps Domain Containing 1

Function

May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.

Biological Process

EndocytosisManual Assertion Based On ExperimentIBA:GO_Central
Endosomal transportManual Assertion Based On ExperimentIBA:GO_Central
Receptor-mediated endocytosisIEA:InterPro

Cellular Location

Membrane, clathrin-coated pit
Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.

Involvement in disease

Neurodegeneration with brain iron accumulation 7 (NBIA7):
A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance.

PTM

EGF stimulates phosphorylation on Tyr-residues.