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RSF1 (remodeling and spacing factor 1)

Written2008-07Tian-Li Wang, Joon T Park
Departments of Gynecology/Obstetrics, Oncology Johns Hopkins Medical Institutions CRBII, Rm: 306 1550 Orleans Street Baltimore, MD 21231, USA

(Note : for Links provided by Atlas : click)


HGNC (Hugo) RSF1
HGNC Alias symbXAP8
HGNC Previous nameHBXAP
HGNC Previous namehepatitis B virus x associated protein
LocusID (NCBI) 51773
Atlas_Id 44107
Location 11q14.1  [Link to chromosome band 11q14]
Location_base_pair Starts at 77666229 and ends at 77820834 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RSF1.png]
Local_order gene orientation: centromere -3' RSF1 5'- telomere.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ASPH (8q12.3)::RSF1 (11q14.1)CTNNA3 (10q21.3)::RSF1 (11q14.1)EXT1 (8q24.11)::RSF1 (11q14.1)
NARS2 (11q14.1)::RSF1 (11q14.1)NCOR1 (17p12)::RSF1 (11q14.1)RBBP6 (16p12.1)::RSF1 (11q14.1)
RSF1 (11q14.1)::CNTN4 (3p26.3)RSF1 (11q14.1)::HSPA13 (21q11.2)RSF1 (11q14.1)::INTS4 (11q14.1)
RSF1 (11q14.1)::KCTD21 (11q14.1)RSF1 (11q14.1)::KLC2 (11q13.2)RSF1 (11q14.1)::PHF12 (17q11.2)
RSF1 (11q14.1)::TENM4 (11q14.1)SOCS7 (17q12)::RSF1 (11q14.1)TPCN2 (11q13.3)::RSF1 (11q14.1)


  Genomic organization of human RSF1.
Description Rsf1 gene is encoded by 16 exons spanning 154.607 Mb that are located on chromosome 11p14.1.
Transcription 5.131 Kb mRNA, the coding sequence is from 121 bp-4446 bp.


Note 1441 amino acids, highly acidic protein (pI 4.94), with calculated molecular mass of 164 kD. SDS-PAGE detected native RSF1 at molecular mass of 200 to 300 kD
Contain a DDT domain, Zinc finger PHD-type domain which was found in nuclear proteins thought to be involved in chromatin-mediated transcriptional regulation.
RSF1 also contains 3 nuclear localization signal near C-terminus.
  Diagram of the RSF1 protein.
Description Using a variation of the yeast 2-hybrid screen aiming to identify proteins interacting with hepatitis B virus X protein (HBX), Shamay et al (2002a) cloned RSF1 from a spleen cDNA library. Therefore, the initial name of RSF1 was called Hepatitis B virus X-Associated Protein (HBXAP). Using 5'RACE, 3 splice variants were cloned and named HBXAP-alpha, -beta, -gamma, which contains 1431, 1400, and 1189 amino acids, respectively. By characterizing a protein remodeling complex RSF, Loyola A et al has identified two interacting subunits: RSF1 and SNF2H. They used peptide sequence information of RSF1 to clone the full-length cDNA. The deduced sequence contains 1441 amino acids which includes 252 additional amino acids at N-terminus as compared to HBXAP-gamma. Reconstitute experiment by isolating protein complex from coinfection of viruses caring each subunit can recapitulate the chromatin assembly ability and ATPase activity of native complex. They also showed that SNF2H binds to DNA independently of histones. However, RSF1 couldn't bind to DNA unless histones are present.
Expression Highly expressed in heart, skeletal muscle, kidney, and placenta, and expressed weakly in brain and colon.
Localisation Mainly located at cell nucleus. During mitosis, the expression in the nucleus is decreased.
Function RSF1 functions as transcription coactivator when associated with hepatitis B virus X protein (HBX). Shamay et al (2002b) observed the direct interaction between the RSF1 variant, HBXAP-gamma, and HBX. HBXAP-gamma increased hepatitis B viral transcription in an HBX-dependent manner. Furthermore, in the presence of both HBX and HBXAP, the transcription of a nuclear factor kappa-B ( NFKB ) was significantly increased. However, in the presence of HBXAP alone, the transcription of a NFKB was decreased in a dose-dependent manner. Examination of HBXAP-gamma deletion mutants showed that the interaction between HBX and HBXAP-gamma was mediated by the PHD domain in HBXAP-gamma.
RSF1 functions as chromatin remodeling and spacing when associated with SNF2H. Loyola et al reconstituted the RSF complex by overexpressing two subunits, RSF1 and SNF2H. RSF1 assembled nucleosome randomly as a histone chaperone in the nuclei. The resulting nucleosomes were then redistributed into a regularly spaced nucleosome array by the ATP-utilizing nucleosome mobilization factor SNF2H. At the cellular level, Rsf1/SNF2H complex participated in chromatin remodeling by mobilizing nucleosomes in response to a variety of growth modifying signals and environmental cues. Sheu JJ et al found that the induction of RSF1 expression affected the molecular partnership of SNF2H and translocated SNF2H into nuclei where it colocalized with RSF1. To determine which domain in the RSF1 is involved in the binding to SNF2H, a series of RSF1-deletion mutants were generated. Only the fragment that contains DDT, Glu-rich, and PHD motifs could be immunoprecipitated with SNF2H. Ectopic expression of this RSF1 fragment disrupted RSF1/SNF2H complex and resulted in remarkable growth inhibition in ovarian cancer cells with RSF1 gene amplification and overexpression, but not in the cells without detectable RSF1 expression. This finding suggests that interaction between RSF1 and SNF2H may define a survival signal in the tumors overexpressing RSF1.


Somatic Chromosome 11q is one of the most common targets for allelic imbalance alteration in human cancers. Several candidate tumor-promoting genes were postulated previously. In ovarian carcinoma, Shih et al, has pinpointed a minimal amplicon spanning from 76.6 to 78.4 Mb on the chromosome 11q, which harbor 13 genes. Rsf1 was identified as the gene with most consistent correlation between gene amplification and transcription up-regulation.

Implicated in

Entity Ovarian cancer
Prognosis Shih et al found that amplification of Rsf1 locus was correlated with shorter overall survival of ovarian cancer patients.
Cytogenetics Amplification of 11q13 detected an ovarian cancer cell line, OVCAR3.
Oncogenesis Shih et al found that the amplification of chr11q13 is associated with RSF1 protein over-expression. siRNA knockdown experiment in OVCAR3 cell, which harbor Rsf-1 amplification, demonstrated it is essential for tumor cell survival.
Mao TL et al found that RSF1 overexpression was observed in 25% of high-grade ovarian serous carcinomas and in less than 7% of low-grade ovarian serous carcinoma and ovarian endometrioid. RSF1 does not express in any of the ovarian serous borderline tumors, ovarian clear cell carcinomas, ovarian mucinous carcinomas, and normal ovaries. Overexpression of RSF1 was significantly associated with high-grade ovarian serous carcinoma (P < 0.05) as compared with other types of ovarian tumors, demonstrating that RSF1 expression is primarily confined to high-grade serous carcinoma, the most aggressive ovarian cancer.


Functional analysis of the subunits of the chromatin assembly factor RSF.
Loyola A, Huang JY, LeRoy G, Hu S, Wang YH, Donnelly RJ, Lane WS, Lee SC, Reinberg D.
Mol Cell Biol. 2003 Oct;23(19):6759-68.
PMID 12972596
Expression of Rsf-1, a chromatin-remodeling gene, in ovarian and breast carcinoma.
Mao TL, Hsu CY, Yen MJ, Gilks B, Sheu JJ, Gabrielson E, Vang R, Cope L, Kurman RJ, Wang TL, Shih IeM.
Hum Pathol. 2006 Sep;37(9):1169-75. Epub 2006 Jul 7.
PMID 16938522
HBXAP, a novel PHD-finger protein, possesses transcription repression activity.
Shamay M, Barak O, Shaul Y.
Genomics. 2002a Apr;79(4):523-9.
PMID 11944984
The roles of human sucrose nonfermenting protein 2 homologue in the tumor-promoting functions of Rsf-1.
Sheu JJ, Choi JH, Yildiz I, Tsai FJ, Shaul Y, Wang TL, Shih IeM.
Cancer Res. 2008 Jun 1;68(11):4050-7.
PMID 18519663
Amplification of a chromatin remodeling gene, Rsf-1/HBXAP, in ovarian carcinoma.
Shih IeM, Sheu JJ, Santillan A, Nakayama K, Yen MJ, Bristow RE, Vang R, Parmigiani G, Kurman RJ, Trope CG, Davidson B, Wang TL.
Proc Natl Acad Sci U S A. 2005 Sep 27;102(39):14004-9. Epub 2005 Sep 19.
PMID 16172393


This paper should be referenced as such :
Wang, TL ; Park, JT
RSF1 (remodeling, spacing factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(6):426-428.
Free journal version : [ pdf ]   [ DOI ]

External links


HGNC (Hugo)RSF1   18118
Entrez_Gene (NCBI)RSF1    remodeling and spacing factor 1
AliasesHBXAP; RSF-1; XAP8; p325
GeneCards (Weizmann)RSF1
Ensembl hg19 (Hinxton)ENSG00000048649 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000048649 [Gene_View]  ENSG00000048649 [Sequence]  chr11:77666229-77820834 [Contig_View]  RSF1 [Vega]
ICGC DataPortalENSG00000048649
TCGA cBioPortalRSF1
AceView (NCBI)RSF1
Genatlas (Paris)RSF1
SOURCE (Princeton)RSF1
Genetics Home Reference (NIH)RSF1
Genomic and cartography
GoldenPath hg38 (UCSC)RSF1  -     chr11:77666229-77820834 -  11q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RSF1  -     11q14.1   [Description]    (hg19-Feb_2009)
GoldenPathRSF1 - 11q14.1 [CytoView hg19]  RSF1 - 11q14.1 [CytoView hg38]
Genome Data Viewer NCBIRSF1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF059317 AF227948 AF380176 AK001268 AK096617
RefSeq transcript (Entrez)NM_016578
Consensus coding sequences : CCDS (NCBI)RSF1
Gene ExpressionRSF1 [ NCBI-GEO ]   RSF1 [ EBI - ARRAY_EXPRESS ]   RSF1 [ SEEK ]   RSF1 [ MEM ]
Gene Expression Viewer (FireBrowse)RSF1 [ Firebrowse - Broad ]
GenevisibleExpression of RSF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51773
GTEX Portal (Tissue expression)RSF1
Human Protein AtlasENSG00000048649-RSF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T23   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T23  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T23
Domaine pattern : Prosite (Expaxy)ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)Rsf-1    WHIM1_dom    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)PHD (PF00628)    WHIM1 (PF15612)   
Domain families : Pfam (NCBI)pfam00628    pfam15612   
Domain families : Smart (EMBL)PHD (SM00249)  
Conserved Domain (NCBI)RSF1
AlphaFold pdb e-kbQ96T23   
Human Protein Atlas [tissue]ENSG00000048649-RSF1 [tissue]
Protein Interaction databases
IntAct (EBI)Q96T23
Complex Portal (EBI)Q96T23 CPX-455 RSF complex
Ontologies - Pathways
Ontology : AmiGOtranscription coregulator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  nucleosome positioning  ATPase  RSF complex  RSF complex  CENP-A containing nucleosome assembly  histone binding  histone binding  negative regulation of DNA binding  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  positive regulation of viral transcription  
Ontology : EGO-EBItranscription coregulator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  nucleosome positioning  ATPase  RSF complex  RSF complex  CENP-A containing nucleosome assembly  histone binding  histone binding  negative regulation of DNA binding  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  positive regulation of viral transcription  
REACTOMEQ96T23 [protein]
REACTOME PathwaysR-HSA-606279 [pathway]   
NDEx NetworkRSF1
Atlas of Cancer Signalling NetworkRSF1
Wikipedia pathwaysRSF1
Orthology - Evolution
GeneTree (enSembl)ENSG00000048649
Phylogenetic Trees/Animal Genes : TreeFamRSF1
Homologs : HomoloGeneRSF1
Homology/Alignments : Family Browser (UCSC)RSF1
Gene fusions - Rearrangements
Fusion : MitelmanASPH::RSF1 [8q12.3/11q14.1]  
Fusion : MitelmanEXT1::RSF1 [8q24.11/11q14.1]  
Fusion : MitelmanRSF1::HSPA13 [11q14.1/21q11.2]  
Fusion : MitelmanRSF1::INTS4 [11q14.1/11q14.1]  
Fusion : MitelmanRSF1::KCTD21 [11q14.1/11q14.1]  
Fusion : MitelmanRSF1::KLC2 [11q14.1/11q13.2]  
Fusion : MitelmanRSF1::PHF12 [11q14.1/17q11.2]  
Fusion : MitelmanRSF1::TENM4 [11q14.1/11q14.1]  
Fusion : MitelmanSOCS7::RSF1 [17q12/11q14.1]  
Fusion : QuiverRSF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRSF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSF1
Exome Variant ServerRSF1
GNOMAD BrowserENSG00000048649
Varsome BrowserRSF1
ACMGRSF1 variants
Genomic Variants (DGV)RSF1 [DGVbeta]
DECIPHERRSF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRSF1 
ICGC Data PortalRSF1 
TCGA Data PortalRSF1 
Broad Tumor PortalRSF1
OASIS PortalRSF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRSF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRSF1
Mutations and Diseases : HGMDRSF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)RSF1
DoCM (Curated mutations)RSF1
CIViC (Clinical Interpretations of Variants in Cancer)RSF1
NCG (London)RSF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry RSF1
NextProtQ96T23 [Medical]
Target ValidationRSF1
Huge Navigator RSF1 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDRSF1
Pharm GKB GenePA29210
Clinical trialRSF1
DataMed IndexRSF1
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:27:20 CEST 2021

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