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]

Description

RALBP1 associated Eps domain containing 1

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (138903493 - 138988261)

Ensembl ID

ENSG00000135597  (ver. 103.38)

Orthologs

Mouse Reps1: ENSMUSG00000019854

UniProt

Q96D71

neXtProt

NX_Q96D71

Human splice variants
Mouse splice variants

Protein structure