RSF1 (Remodeling and Spacing Factor 1)
A chromatin remodeling factor implicated in transcriptional regulation and cancer progression.
Gene Information Card
| Symbol | RSF1 |
|---|---|
| Full Name | Remodeling and Spacing Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 51773 ncbi.nlm.nih.gov/gene/51773 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q96T23 |
| OMIM ID | 608522 |
| HGNC ID | 18118 |
| Aliases | HBXAP, p325, PPP1R131 |
Description
RSF1 (Remodeling and Spacing Factor 1) encodes a nuclear protein that is a component of the RSF chromatin-remodeling complex. This complex facilitates nucleosome spacing and regulates transcription by altering chromatin structure. RSF1 interacts with hepatitis B virus X-associated protein (HBXAP) and is involved in cell cycle progression, DNA damage response, and transcriptional activation. Overexpression of RSF1 is associated with several cancers, including ovarian and hepatocellular carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | RSF1 amplification and overexpression promote genomic instability and tumorigenesis through aberrant chromatin remodeling and transcriptional dysregulation. | PMID: 16936731; COSMIC |
| Hepatocellular carcinoma | RSF1 overexpression enhances cell proliferation and invasion via activation of the PI3K/AKT signaling pathway. | PMID: 28407146 |
| Breast cancer | RSF1 copy number gain correlates with poor prognosis and may drive oncogenic transcriptional programs. | PMID: 22952447 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 8.2 | Medium |
| Liver | 6.1 | Low |
| Breast | 5.4 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.8 | Cervical cancer cell line; high expression |
| HepG2 | 9.4 | Hepatocellular carcinoma cell line |
| MCF7 | 7.1 | Breast cancer cell line |
| A549 | 6.5 | Lung cancer cell line |
| K562 | 3.2 | Leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1873C>T (p.Arg625Trp) | Missense | <0.01% (COSMIC) | Unknown; located in a conserved region |
| c.2446G>A (p.Glu816Lys) | Missense | <0.01% (COSMIC) | Unknown; may affect protein stability |
| Amplification | Copy number gain | ~12% in ovarian cancer (COSMIC) | Increased gene expression; oncogenic |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RSF1. Knockdown studies show reduced cell proliferation.
Gain of Function (GOF)
Amplification and overexpression are associated with oncogenic gain-of-function in ovarian and liver cancers.
Dominant Negative (DN)
No dominant-negative mutations described for RSF1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin remodeling (RSF complex)
• PI3K/AKT signaling (in hepatocellular carcinoma)
• DNA damage response
Protein Summary
RSF1 is a 1409-amino acid nuclear protein (UniProt Q96T23) that serves as the largest subunit of the RSF chromatin-remodeling complex. It contains a PHD finger domain and a BRK domain, which mediate interactions with histones and other chromatin factors. RSF1 facilitates nucleosome sliding and spacing, thereby regulating gene expression. It is also involved in the DNA damage response by promoting chromatin assembly after repair. Overexpression of RSF1 is oncogenic in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSF1 Knockout HEK293 Cell Line | EDJ-KQ3667 | Human | 51773 | Details Get a Quote |
| RSF1 Knockout HCT 116 Cell Line | EDJ-KQ24274 | Human | 51773 | Details Get a Quote |
| RSF1 Knockout A-549 Cell Line | EDJ-KQ25649 | Human | 51773 | Details Get a Quote |
| RSF1 Knockout HeLa Cell Line | EDJ-KQ25651 | Human | 51773 | Details Get a Quote |
