RCC1L Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion. Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system. Ubiquitous. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: GEF; GEF, Ras; Mitochondrial
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component:  mitochondrial inner membrane; mitochondrial membrane
Molecular Function:  GTP binding; guanyl-nucleotide exchange factor activity; protein binding; rRNA binding
Biological Process:  mitochondrial membrane fusion; positive regulation of mitochondrial translation
Disease: Williams-beuren Syndrome
Reference #:  Q96I51 (UniProtKB)
Alt. Names/Synonyms: DKFZp434D0421; MGC189739; MGC44931; RCC1 like; RCC1-like G exchanging factor-like protein; RCC1L; WBS16; WBSCR16; Williams-Beuren syndrome chromosomal region 16 protein; Williams-Beuren syndrome chromosome region 16
Gene Symbols: RCC1L
Molecular weight: 49,997 Da
Basal Isoelectric point: 8.74  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB