RCC1L Gene Summary [Human]
This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | RCC1L |
| Official Name | RCC1 like [Source:HGNC Symbol;Acc:HGNC:14948] |
| Ensembl ID | ENSG00000274523 |
| Bio databases IDs | |
| Aliases | RCC1 like |
| Synonyms | 5730496C04Rik, LOC653375, RCC1 like, reculator of chromosome condensation 1 like, WBSCR16 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RCC1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Regulator of chromosome condensation (RCC1) repeat
- rRNA binding
- guanyl-nucleotide exchange factor
- protein binding
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RCC1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of mitochondrial translation
- mitochondrial fusion
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- RNA binding
- guanyl-nucleotide exchange factor activity
- rRNA binding