title: The RCC1 superfamily: from genes, to function, to disease.
abstract: The Regulator of Chromosome Condensation 1 (RCC1) was identified over 20 years ago as a critical cell cycle regulator. By analyzing its amino acid sequence, RCC1 was found to consist of seven homologous repeats of 51-68 amino acid residues, which were later shown to adopt a seven-bladed beta-propeller fold. Since the initial identification of RCC1, a number of proteins have been discovered that contain one or more RCC1-like domains (RLDs). As we show here, these RCC1 superfamily proteins can be subdivided in five subgroups based on structural criteria. In recent years, a number of studies have been published regarding the functions of RCC1 superfamily proteins. From these studies, the emerging picture is that the RLD is a versatile domain which may perform many different functions, including guanine nucleotide exchange on small GTP-binding proteins, enzyme inhibition or interaction with proteins and lipids. Here, we review the available structural and functional data on RCC1 superfamily members, paying special attention to the human proteins and their involvement in disease.
authors.affiliation: Departament de Ciències Fisiològiques II, IDIBELL, Campus de Bellvitge, Universitat de Barcelona, E-08907, L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: Ouadah
authors.initials: O
authors.lastname: Hadjebi
authors.forename: Eduard
authors.initials: E
authors.lastname: Casas-Terradellas
authors.forename: Francesc R
authors.initials: FR
authors.lastname: Garcia-Gonzalo
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Rosa
mesh_terms: D000595:Amino Acid Sequence; D018797:Cell Cycle Proteins / Q000145:classification / Q000235:genetics* / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D020662:Guanine Nucleotide Exchange Factors / Q000145:classification / Q000235:genetics* / Q000502:physiology*; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000145:classification / Q000235:genetics* / Q000502:physiology*; D010802:Phylogeny; D016415:Sequence Alignment; D014018:Tissue Distribution
chemical_list: D018797:Cell Cycle Proteins; D020662:Guanine Nucleotide Exchange Factors; D009687:Nuclear Proteins; C062521:RCC1 protein, human