RCC1L
Regulator of Chromosome Condensation 1 Like
Gene Information Card
| Symbol | RCC1L |
|---|---|
| Full Name | Regulator of Chromosome Condensation 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 81554 ncbi.nlm.nih.gov/gene/81554 |
| Ensembl ID | ENSG00000106682 |
| UniProt ID | Q96I51 |
| OMIM ID | 606629 |
| HGNC ID | 16327 |
| Aliases | WBSCR16, G1.2, RCC1-like, RCC1L1 |
Description
RCC1L (also known as WBSCR16) encodes a protein with similarity to RCC1, a guanine nucleotide exchange factor for Ran. The protein localizes to mitochondria and is involved in mitochondrial RNA metabolism and chromosome condensation regulation. It is located in the Williams-Beuren syndrome critical region on chromosome 7.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Hemizygous deletion of 7q11.23 including RCC1L | OMIM #194050 |
| Mitochondrial respiratory chain deficiency | Impaired mitochondrial RNA processing | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.001% | Likely benign |
| c.100C>T | Nonsense | 0.0005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and reduced mitochondrial function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • mitochondrial RNA processing |
| • chromosome condensation | • nucleus |
Pathways
• Mitochondrial RNA metabolism
• Ran GTPase cycle
Protein Summary
The RCC1L protein contains a RCC1-like domain and localizes to mitochondria. It functions as a guanine nucleotide exchange factor and is essential for mitochondrial RNA processing and chromosome condensation. Defects are associated with Williams-Beuren syndrome and mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCC1L Knockout HEK293 Cell Line | EDJ-KQ9708 | Human | 81554 | Details Get a Quote |
| RCC1L Knockout A-549 Cell Line | EDJ-KQ35268 | Human | 81554 | Details Get a Quote |
| RCC1L Knockout HCT 116 Cell Line | EDJ-KQ36492 | Human | 81554 | Details Get a Quote |
| RCC1L Knockout HeLa Cell Line | EDJ-KQ36493 | Human | 81554 | Details Get a Quote |
