| UniProt Protein Function: | WBSCR16: a guanine-nucleotide exchange factor (GEF) factor for Ran, a nuclear GTP-binding protein. Its interaction with Ran probably plays an important role in the regulation of gene expression. Deleted in Williams syndrome, a multisystem developmental disorder. Contains six regulator of chromosome condensation (RCC1) domains. |
| UniProt Protein Details: | Protein type:Mitochondrial; GEFs, Ras; GEFs Chromosomal Location of Human Ortholog: 7q11.23 Disease: Williams-beuren Syndrome |
| NCBI Summary: | 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] |
| UniProt Code: | Q96I51 |
| NCBI GenInfo Identifier: | 116242843 |
| NCBI Gene ID: | 81554 |
| NCBI Accession: | Q96I51.2 |
| UniProt Secondary Accession: | Q96I51,Q548B1, Q8IW88, Q8N572, Q9H0G7, D3DXK0, F5GX55 F5H6C7, |
| UniProt Related Accession: | Q96I51 |
| Molecular Weight: | 48,761 Da |
| NCBI Full Name: | Williams-Beuren syndrome chromosomal region 16 protein |
| NCBI Synonym Full Names: | RCC1 like |
| NCBI Official Symbol: | RCC1L |
| NCBI Official Synonym Symbols: | WBSCR16 |
| NCBI Protein Information: | Williams-Beuren syndrome chromosomal region 16 protein |
| UniProt Protein Name: | Williams-Beuren syndrome chromosomal region 16 protein |
| UniProt Synonym Protein Names: | RCC1-like G exchanging factor-like protein |
| UniProt Gene Name: | WBSCR16 |
| UniProt Entry Name: | WBS16_HUMAN |
