RBL1: Retinoblastoma-Like 1 (p107) Tumor Suppressor Gene
Comprehensive genomic and functional analysis of RBL1, a key cell cycle regulator and tumor suppressor
Gene Information Card
| Symbol | RBL1 |
|---|---|
| Full Name | Retinoblastoma-like 1 (p107) |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 5933 ncbi.nlm.nih.gov/gene/5933 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | P28749 |
| OMIM ID | 116957 |
| HGNC ID | 9884 |
| Aliases | p107, PRB1, CP107 |
Description
RBL1 (retinoblastoma-like 1) encodes p107, a member of the retinoblastoma (RB) protein family. p107 functions as a tumor suppressor by regulating cell cycle progression through binding and inhibiting E2F transcription factors. It is involved in chromatin remodeling, differentiation, and senescence. Loss or alteration of RBL1 contributes to various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinoblastoma | Loss of RBL1 function disrupts E2F regulation, promoting uncontrolled cell proliferation. | ClinVar, COSMIC |
| Lung cancer | RBL1 mutations and reduced expression are associated with non-small cell lung cancer progression. | COSMIC, NCBI |
| Breast cancer | Altered RBL1 expression correlates with poor prognosis and tumor aggressiveness. | COSMIC, ClinVar |
| Colorectal cancer | RBL1 inactivation via mutation or deletion contributes to tumorigenesis. | COSMIC, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 15.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 18.4 | High expression |
| MCF7 (breast cancer) | 7.2 | Low expression |
| HCT116 (colorectal cancer) | 14.1 | Medium expression |
| HEK293 (embryonic kidney) | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncated protein |
| c.567_568del (p.Glu189fs) | Frameshift | <0.5% | Loss of function; premature stop |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown; possibly damaging |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu189fs) lead to truncated or absent p107 protein, impairing cell cycle control.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RBL1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in RBL1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • transcription factor binding (GO:0008134) | • transcription regulatory region DNA binding (GO:0044212) |
| • cell cycle (GO:0007049) | • regulation of cell cycle (GO:0051726) |
Pathways
• Cell cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• E2F transcription factor network (Reactome R-HSA-8953897)
Protein Summary
p107 (RBL1) is a 1068-amino-acid nuclear protein with a conserved pocket domain that mediates binding to E2F transcription factors and viral oncoproteins. It regulates G1/S transition, differentiation, and apoptosis. p107 shares functional redundancy with p130 (RBL2) and RB1. Post-translational modifications include phosphorylation by cyclin-dependent kinases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBL1 Knockout HEK293 Cell Line | EDJ-KQ396 | Human | 5933 | Details Get a Quote |
| RBL1 Knockout HeLa Cell Line | EDJ-KQ17984 | Human | 5933 | Details Get a Quote |
| RBL1 Knockout A-549 Cell Line | EDJ-KQ18621 | Human | 5933 | Details Get a Quote |
| RBL1 Knockout HCT 116 Cell Line | EDJ-KQ18622 | Human | 5933 | Details Get a Quote |
