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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
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RSF1 (remodeling and spacing factor 1)


Other namesHBXAP
HGNC (Hugo) RSF1
LocusID (NCBI) 51773
Location 11q14.1
Location_base_pair Starts at 77377274 and ends at 77531880 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order gene orientation: centromere -3' RSF1 5'- telomere.


  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.

External links

HGNC (Hugo)RSF1   18118
Entrez_Gene (NCBI)RSF1  51773  remodeling and spacing factor 1
GeneCards (Weizmann)RSF1
Ensembl hg19 (Hinxton)ENSG00000048649 [Gene_View]  chr11:77377274-77531880 [Contig_View]  RSF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000048649 [Gene_View]  chr11:77377274-77531880 [Contig_View]  RSF1 [Vega]
ICGC DataPortalENSG00000048649
AceView (NCBI)RSF1
Genatlas (Paris)RSF1
SOURCE (Princeton)RSF1
Genomic and cartography
GoldenPath hg19 (UCSC)RSF1  -     chr11:77377274-77531880 -  11q14.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RSF1  -     11q14.1   [Description]    (hg38-Dec_2013)
EnsemblRSF1 - 11q14.1 [CytoView hg19]  RSF1 - 11q14.1 [CytoView hg38]
Mapping of homologs : NCBIRSF1 [Mapview hg19]  RSF1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF059317 AF227948 AF380176 AK001268 AK096617
RefSeq transcript (Entrez)NM_016578
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NT_167190 NW_001838028 NW_004929380
Consensus coding sequences : CCDS (NCBI)RSF1
Cluster EST : UnigeneHs.593415 [ NCBI ]
CGAP (NCI)Hs.593415
Alternative Splicing : Fast-db (Paris)GSHG0006040
Alternative Splicing GalleryENSG00000048649
Gene ExpressionRSF1 [ NCBI-GEO ]     RSF1 [ SEEK ]   RSF1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T23 (Uniprot)
NextProtQ96T23  [Medical]
With graphics : InterProQ96T23
Splice isoforms : SwissVarQ96T23 (Swissvar)
Domaine pattern : Prosite (Expaxy)ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)Rsf-1    WHIM1_dom    WHIM2_dom    WHIM3_domain    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Related proteins : CluSTrQ96T23
Domain families : Pfam (Sanger)PHD (PF00628)    WHIM1 (PF15612)    WHIM2 (PF15613)    WHIM3 (PF15614)   
Domain families : Pfam (NCBI)pfam00628    pfam15612    pfam15613    pfam15614   
Domain families : Smart (EMBL)PHD (SM00249)  
DMDM Disease mutations51773
Blocks (Seattle)Q96T23
Human Protein AtlasENSG00000048649
Peptide AtlasQ96T23
IPIIPI00290652   IPI00514411   IPI00982445   IPI01010155   IPI00977965   IPI00976511   IPI00981883   
Protein Interaction databases
IntAct (EBI)Q96T23
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  nucleosome assembly  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  zinc ion binding  nucleosome positioning  ATPase activity  RSF complex  centromere-specific nucleosome assembly  histone binding  negative regulation of DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of viral transcription  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  nucleosome assembly  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  zinc ion binding  nucleosome positioning  ATPase activity  RSF complex  centromere-specific nucleosome assembly  histone binding  negative regulation of DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of viral transcription  
REACTOMEQ96T23 [protein]
REACTOME PathwaysREACT_115566 Cell Cycle [pathway]
Protein Interaction DatabaseRSF1
DoCM (Curated mutations)RSF1
Wikipedia pathwaysRSF1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRSF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSF1
Exome Variant ServerRSF1
SNP (GeneSNP Utah)RSF1
Genetic variants : HAPMAPRSF1
Genomic Variants (DGV)RSF1 [DGVbeta]
ICGC Data PortalENSG00000048649 
Somatic Mutations in Cancer : COSMICRSF1 
CONAN: Copy Number AnalysisRSF1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)11:77377274-77531880
Mutations and Diseases : HGMDRSF1
NextProtQ96T23 [Medical]
Disease Genetic AssociationRSF1
Huge Navigator RSF1 [HugePedia]  RSF1 [HugeCancerGEM]
snp3D : Map Gene to Disease51773
DGIdb (Drug Gene Interaction db)RSF1
General knowledge
Homologs : HomoloGeneRSF1
Homology/Alignments : Family Browser (UCSC)RSF1
Phylogenetic Trees/Animal Genes : TreeFamRSF1
Chemical/Protein Interactions : CTD51773
Chemical/Pharm GKB GenePA29210
Clinical trialRSF1
Cancer Resource (Charite)ENSG00000048649
Other databases
PubMed51 Pubmed reference(s) in Entrez


Hepatitis B virus pX interacts with HBXAP, a PHD finger protein to coactivate transcription.
Shamay M, Barak O, Doitsh G, Ben-Dor I, Shaul Y.
J Biol Chem. 2002b Mar 22;277(12):9982-8. Epub 2002 Jan 11.
PMID 11788598
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
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
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
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
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
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Written07-2008Tian-Li Wang, Joon T Park
Departments of Gynecology/Obstetrics and Oncology Johns Hopkins Medical Institutions CRBII, Rm: 306 1550 Orleans Street Baltimore, MD 21231, USA


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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Feb 17 20:33:22 CET 2015

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