REPS1 May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. Widely expressed with highest levels in heart and testis. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Vesicle
Chromosomal Location of human Ortholog: 6q24.1
Cellular Component:  clathrin-coated pit; cytoplasm; cytosol; intracellular membrane-bounded organelle; nucleoplasm; plasma membrane
Molecular Function:  calcium ion binding; protein binding; SH3 domain binding
Biological Process:  endocytosis; endosomal transport
Disease: Neurodegeneration With Brain Iron Accumulation 7
Reference #:  Q96D71 (UniProtKB)
Alt. Names/Synonyms: NBIA7; RALBP1; RALBP1 associated Eps domain containing 1; RalBP1-associated Eps domain-containing protein 1; RalBP1-interacting protein 1; REPS1
Gene Symbols: REPS1
Molecular weight: 86,662 Da
Basal Isoelectric point: 5.45  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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REPS1

Protein Structure Not Found.


Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein