The RCC1 superfamily: from genes, to function, to disease

Biochim Biophys Acta. 2008 Aug;1783(8):1467-79. doi: 10.1016/j.bbamcr.2008.03.015. Epub 2008 Apr 10.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Sequence
  • Cell Cycle Proteins / classification
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / physiology*
  • Genetic Diseases, Inborn / genetics
  • Guanine Nucleotide Exchange Factors / classification
  • Guanine Nucleotide Exchange Factors / genetics*
  • Guanine Nucleotide Exchange Factors / physiology*
  • Humans
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins / classification
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / physiology*
  • Phylogeny
  • Sequence Alignment
  • Tissue Distribution

Substances

  • Cell Cycle Proteins
  • Guanine Nucleotide Exchange Factors
  • Nuclear Proteins
  • RCC1 protein, human