RASSF1: Ras Association Domain Family Member 1
A tumor suppressor gene frequently inactivated in human cancers
Gene Information Card
| Symbol | RASSF1 |
|---|---|
| Full Name | Ras Association Domain Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 11186 ncbi.nlm.nih.gov/gene/11186 |
| Ensembl ID | ENSG00000068028 |
| UniProt ID | Q9NS23 |
| OMIM ID | 605082 |
| HGNC ID | 9882 |
| Aliases | RASSF1A, RASSF1C, NORE2A, RDA32, REH3P21 |
Description
RASSF1 (Ras Association Domain Family Member 1) is a tumor suppressor gene located on chromosome 3p21.31. It encodes multiple isoforms, with RASSF1A and RASSF1C being the most studied. RASSF1A is frequently inactivated by promoter hypermethylation in various cancers, including lung, breast, prostate, and ovarian cancers. The protein regulates apoptosis, cell cycle arrest, and microtubule stability through interaction with Ras, MST1/2, and other signaling molecules.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Promoter hypermethylation of RASSF1A leads to loss of tumor suppressor function, promoting uncontrolled cell proliferation | ClinVar, COSMIC |
| Breast cancer | Epigenetic silencing of RASSF1A correlates with poor prognosis and metastasis | ClinVar, COSMIC |
| Prostate cancer | Hypermethylation of RASSF1A promoter is a frequent early event in prostate carcinogenesis | ClinVar, COSMIC |
| Ovarian cancer | RASSF1A inactivation via methylation contributes to tumor progression | ClinVar, COSMIC |
| Renal cell carcinoma | Loss of RASSF1A expression due to methylation is associated with advanced disease | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Breast | 4.8 | Low |
| Prostate | 6.1 | Low |
| Ovary | 5.5 | Low |
| Kidney | 7.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 2.1 | Low expression due to promoter methylation |
| MCF7 (breast cancer) | 1.8 | Low expression due to promoter methylation |
| PC3 (prostate cancer) | 3.0 | Low expression |
| HEK293 (embryonic kidney) | 8.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <1% | Loss of start codon, likely loss of function |
| c.73C>T (p.Arg25*) | Nonsense | <1% | Premature stop, loss of function |
| c.341G>A (p.Arg114His) | Missense | <1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation is the primary mechanism of RASSF1A inactivation in cancers; rare nonsense and frameshift mutations also cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported for RASSF1.
Dominant Negative (DN)
No dominant-negative mutations reported for RASSF1.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • cell cycle (GO:0007049) |
| • protein binding (GO:0005515) | • guanyl-nucleotide exchange factor activity (GO:0005085) |
| • centrosome (GO:0005813) | • microtubule (GO:0005874) |
Pathways
• RASSF1-mediated apoptosis (Reactome: R-HSA-6804756)
• Hippo signaling pathway (KEGG: hsa04390)
• Ras signaling pathway (KEGG: hsa04014)
Protein Summary
The RASSF1 protein contains a Ras association (RA) domain and a SARAH (Sav/RASSF/Hpo) domain. It acts as a scaffold in the Hippo signaling pathway, promoting apoptosis and cell cycle arrest. RASSF1A localizes to microtubules and centrosomes, regulating mitotic progression. Loss of RASSF1A expression is a common event in many cancers, primarily through epigenetic silencing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASSF1 Knockout HEK293 Cell Line | EDJ-KQ1233 | Human | 11186 | Details Get a Quote |
| RASSF10 Knockout HEK293 Cell Line | EDJ-KQ14999 | Human | 644943 | Details Get a Quote |
| RASSF1 Knockout A-549 Cell Line | EDJ-KQ19218 | Human | 11186 | Details Get a Quote |
| RASSF1 Knockout HCT 116 Cell Line | EDJ-KQ20579 | Human | 11186 | Details Get a Quote |
| RASSF1 Knockout HeLa Cell Line | EDJ-KQ20580 | Human | 11186 | Details Get a Quote |
| RASSF10 Knockout A-549 Cell Line | EDJ-KQ45518 | Human | 644943 | Details Get a Quote |
| RASSF10 Knockout HeLa Cell Line | EDJ-KQ60577 | Human | 644943 | Details Get a Quote |
| RASSF10 Knockout HCT 116 Cell Line | EDJ-KQ77401 | Human | 644943 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
