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：
ClinVar：https://www.clinvar.com/gene/51773
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RSF1

Gene Ontology (GO)

• chromatin remodeling (GO:0006338) • nucleus (GO:0005634)
• histone binding (GO:0042393) • transcription coregulator activity (GO:0003712)
• regulation of transcription by RNA polymerase II (GO:0006357)

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.

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Related Products

Product name Cat.No. Species Gene ID
TNFRSF1A Knockout HEK293 Cell Line EDC90705 Human 7132 Details Get a Quote
TNFRSF13C Knockout HEK293 Cell Line EDJ-KQ596 Human 115650 Details Get a Quote
TNFRSF1B Knockout HEK293 Cell Line EDJ-KQ900 Human 7133 Details Get a Quote
TNFRSF13B Knockout HEK293 Cell Line EDJ-KQ1965 Human 23495 Details Get a Quote
TNFRSF19 Knockout HEK293 Cell Line EDJ-KQ2209 Human 55504 Details Get a Quote
TNFRSF11A Knockout HEK293 Cell Line EDJ-KQ2841 Human 8792 Details Get a Quote
SRSF10 Knockout HEK293 Cell Line EDJ-KQ3279 Human 10772 Details Get a Quote
RSF1 Knockout HEK293 Cell Line EDJ-KQ3667 Human 51773 Details Get a Quote
TNFRSF17 Knockout HEK293 Cell Line EDJ-KQ4130 Human 608 Details Get a Quote
GRSF1 Knockout HEK293 Cell Line EDJ-KQ4800 Human 2926 Details Get a Quote
TNFRSF10A Knockout HEK293 Cell Line EDJ-KQ5665 Human 8797 Details Get a Quote
TNFRSF14 Knockout HEK293 Cell Line EDJ-KQ6355 Human 8764 Details Get a Quote
TNFRSF10D Knockout HEK293 Cell Line EDJ-KQ6360 Human 8793 Details Get a Quote
TNFRSF10C Knockout HEK293 Cell Line EDJ-KQ6367 Human 8794 Details Get a Quote
TNFRSF10B Knockout HEK293 Cell Line EDJ-KQ6368 Human 8795 Details Get a Quote
Displaying Records 1 To 15 Of 87 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/51773
OMIM https://www.omim.org/entry/608522
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18118
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148848
UniProt https://www.uniprot.org/uniprot/Q96T23
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=RSF1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RSF1
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