REPS1 gene

RALBP1 associated Eps domain containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7

Cytogenetic Location: 6q24.1, which is the long (q) arm of chromosome 6 at position 24.1

Molecular Location: base pairs 138,904,015 to 138,988,261 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 6q24.1, which is the long (q) arm of chromosome 6 at position 24.1
  • NBIA7
  • RALBP1