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Aliases for RBBP4 Gene

Aliases for RBBP4 Gene

  • Retinoblastoma Binding Protein 4 2 3 5
  • Retinoblastoma-Binding Protein 4 2 3 4
  • Nucleosome-Remodeling Factor Subunit RBAP48 3 4
  • Chromatin Assembly Factor I P48 Subunit 3 4
  • Chromatin Assembly Factor 1 Subunit C 3 4
  • Retinoblastoma-Binding Protein P48 3 4
  • CAF-I 48 KDa Subunit 3 4
  • CAF-1 Subunit C 3 4
  • CAF-I P48 3 4
  • RBAP48 3 4
  • RBBP-4 3 4
  • Chromatin Assembly Factor/CAF-1 P48 Subunit 3
  • MSI1 Protein Homolog 3
  • NURF55 3
  • Lin-53 3

External Ids for RBBP4 Gene

Previous GeneCards Identifiers for RBBP4 Gene

  • GC01P032927
  • GC01P032058
  • GC01P032543
  • GC01P032619
  • GC01P032785
  • GC01P032889
  • GC01P033116
  • GC01P031231

Summaries for RBBP4 Gene

Entrez Gene Summary for RBBP4 Gene

  • This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

GeneCards Summary for RBBP4 Gene

RBBP4 (Retinoblastoma Binding Protein 4) is a Protein Coding gene. Diseases associated with RBBP4 include retinoblastoma and intermediate charcot-marie-tooth neuropathy. Among its related pathways are Chromatin Regulation / Acetylation and Macrophage Differentiation and Growth Inhibition by METS. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and histone deacetylase binding. An important paralog of this gene is RFWD2.

UniProtKB/Swiss-Prot for RBBP4 Gene

  • Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex.

Gene Wiki entry for RBBP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBBP4 Gene

Genomics for RBBP4 Gene

Regulatory Elements for RBBP4 Gene

Enhancers for RBBP4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBBP4 on UCSC Golden Path with GeneCards custom track

Promoters for RBBP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBBP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBBP4 Gene

Chromosome:
1
Start:
32,651,142 bp from pter
End:
32,686,211 bp from pter
Size:
35,070 bases
Orientation:
Plus strand

Genomic View for RBBP4 Gene

Genes around RBBP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBBP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBBP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBBP4 Gene

Proteins for RBBP4 Gene

  • Protein details for RBBP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09028-RBBP4_HUMAN
    Recommended name:
    Histone-binding protein RBBP4
    Protein Accession:
    Q09028
    Secondary Accessions:
    • B2R6G9
    • B4DRH0
    • D3DPQ3
    • P31149
    • Q53H02
    • Q96BV9

    Protein attributes for RBBP4 Gene

    Size:
    425 amino acids
    Molecular mass:
    47656 Da
    Quaternary structure:
    • Interacts with SUV39H1 and HDAC7 (By similarity). Binds directly to helix 1 of the histone fold of histone H4, a region that is not accessible when H4 is in chromatin. Subunit of the chromatin assembly factor 1 (CAF-1) complex, which is composed of RBBP4, CHAF1B and CHAF1A. Subunit of the core histone deacetylase (HDAC) complex, which is composed of HDAC1, HDAC2, RBBP4 and RBBP7. The core HDAC complex associates with SIN3A, ARID4B/SAP180, SAP18, SAP30, SAP130, SUDS3/SAP45 and possibly ARID4A/RBP1 and ING1 to form the SIN3 HDAC complex. The core HDAC complex may also associate with MTA2, MBD3, CHD3 and CHD4 to form the nucleosome remodeling and histone deacetylase complex (the NuRD complex). The NuRD complex may also interact with MBD3L1 and MBD3L2. Interacts with MTA1. Subunit of the PRC2/EED-EZH2 complex, which is composed of at least EED, EZH2, RBBP4, RBBP7 and SUZ12. The PRC2/EED-EZH2 complex may also associate with HDAC1. Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. Part of the nucleosome remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7. Interacts with the viral protein-binding domain of the retinoblastoma protein (RB1). Interacts with SPEN/MINT. Interacts with BRCA1. Interacts with CREBBP, and this interaction may be enhanced by the binding of phosphorylated CREB1 to CREBBP. Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2. Interacts with PHF6.

    Three dimensional structures from OCA and Proteopedia for RBBP4 Gene

    Alternative splice isoforms for RBBP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBBP4 Gene

Proteomics data for RBBP4 Gene at MOPED

Post-translational modifications for RBBP4 Gene

  • Ubiquitination at Lys 143, Lys 160, Lys 178, and Lys 317
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RBBP4 (RBBP4)

No data available for DME Specific Peptides for RBBP4 Gene

Domains & Families for RBBP4 Gene

Gene Families for RBBP4 Gene

Suggested Antigen Peptide Sequences for RBBP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q09028

UniProtKB/Swiss-Prot:

RBBP4_HUMAN :
  • Belongs to the WD repeat RBAP46/RBAP48/MSI1 family.
  • Contains 6 WD repeats.
Family:
  • Belongs to the WD repeat RBAP46/RBAP48/MSI1 family.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with RBBP4: view

Function for RBBP4 Gene

Molecular function for RBBP4 Gene

UniProtKB/Swiss-Prot Function:
Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex.
genes like me logo Genes that share phenotypes with RBBP4: view

Animal Model Products

miRNA for RBBP4 Gene

miRTarBase miRNAs that target RBBP4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBBP4 Gene

Localization for RBBP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBBP4 Gene COMPARTMENTS Subcellular localization image for RBBP4 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for RBBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016580 Sin3 complex NAS 17827154
GO:0016589 NURF complex IDA 20850016
genes like me logo Genes that share ontologies with RBBP4: view

Pathways & Interactions for RBBP4 Gene

genes like me logo Genes that share pathways with RBBP4: view

Gene Ontology (GO) - Biological Process for RBBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006260 DNA replication IEA --
GO:0006335 DNA replication-dependent nucleosome assembly IDA 14718166
GO:0006338 chromatin remodeling IDA 14609955
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with RBBP4: view

No data available for SIGNOR curated interactions for RBBP4 Gene

Drugs & Compounds for RBBP4 Gene

No Compound Related Data Available

Transcripts for RBBP4 Gene

Unigene Clusters for RBBP4 Gene

Retinoblastoma binding protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBBP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for RBBP4 Gene

GeneLoc Exon Structure for
RBBP4
ECgene alternative splicing isoforms for
RBBP4

Expression for RBBP4 Gene

mRNA expression in normal human tissues for RBBP4 Gene

Protein differential expression in normal tissues from HIPED for RBBP4 Gene

This gene is overexpressed in NK cells (11.2) and Fetal ovary (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBBP4 Gene



SOURCE GeneReport for Unigene cluster for RBBP4 Gene Hs.16003

genes like me logo Genes that share expression patterns with RBBP4: view

Protein tissue co-expression partners for RBBP4 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBBP4 Gene

Orthologs for RBBP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBBP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBBP4 35
  • 95.37 (n)
  • 100 (a)
RBBP4 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBBP4 35
  • 96.08 (n)
  • 100 (a)
RBBP4 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbbp4 35
  • 92.24 (n)
  • 100 (a)
Rbbp4 16
Rbbp4 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBBP4 35
  • 99.61 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Rbbp4 35
  • 93.18 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia RBBP4 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBBP4 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBBP4 35
  • 86.04 (n)
  • 99.76 (a)
RBBP4 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBBP4 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbbp4 35
  • 82.04 (n)
  • 99.06 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.537 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2741 35
rbb4 35
  • 80.19 (n)
  • 97.17 (a)
rbb4 36
  • 93 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10761 35
fruit fly
(Drosophila melanogaster)
Insecta Caf1 37
  • 91 (a)
Caf1 35
  • 74.15 (n)
  • 91.06 (a)
Caf1 36
  • 88 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003228 35
  • 72.06 (n)
  • 92.51 (a)
worm
(Caenorhabditis elegans)
Secernentea rba-1 37
  • 54 (a)
lin-53 35
  • 66.91 (n)
  • 73.4 (a)
lin-53 36
  • 73 (a)
ManyToMany
rba-1 36
  • 54 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAT2 36
  • 39 (a)
OneToMany
HAT2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MSI1 35
  • 63.11 (n)
  • 67.23 (a)
soybean
(Glycine max)
eudicotyledons Gma.6467 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10708 35
barley
(Hordeum vulgare)
Liliopsida Hv.8885 35
rice
(Oryza sativa)
Liliopsida Os.37345 35
Os03g0640100 35
  • 62.44 (n)
  • 67.7 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.13849 35
corn
(Zea mays)
Liliopsida Zm.3296 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4514 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06679 35
  • 53.7 (n)
  • 49.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mis16 35
  • 56.62 (n)
  • 55.06 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11085 36
  • 88 (a)
OneToOne
Species with no ortholog for RBBP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RBBP4 Gene

ENSEMBL:
Gene Tree for RBBP4 (if available)
TreeFam:
Gene Tree for RBBP4 (if available)

Paralogs for RBBP4 Gene

Paralogs for RBBP4 Gene

genes like me logo Genes that share paralogs with RBBP4: view

Variants for RBBP4 Gene

Sequence variations from dbSNP and Humsavar for RBBP4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2524 -- 32,679,324(+) GCCTG(A/G)TTAAA intron-variant
rs359954 -- 32,668,553(-) TTATT(C/T)TTTCA intron-variant
rs359955 -- 32,669,173(+) GTCTA(A/C/T)GTTTT intron-variant
rs359956 -- 32,669,388(+) AACAT(A/G)ATTTC intron-variant
rs359957 -- 32,669,922(+) GATGT(A/G)TGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBBP4 Gene

Variant ID Type Subtype PubMed ID
nsv461039 CNV Loss 19166990
nsv519188 CNV Loss 19592680
nsv160489 CNV Loss 16902084

Variation tolerance for RBBP4 Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBBP4 Gene

HapMap Linkage Disequilibrium report
RBBP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBBP4 Gene

Disorders for RBBP4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RBBP4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • retinoblastoma, trilateral
intermediate charcot-marie-tooth neuropathy
retinal cancer
  • malignant neoplasm of retina
sensory system cancer
- elite association - COSMIC cancer census association via MalaCards
Search RBBP4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBBP4

Genetic Association Database (GAD)
RBBP4
Human Genome Epidemiology (HuGE) Navigator
RBBP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBBP4
genes like me logo Genes that share disorders with RBBP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBBP4 Gene

Publications for RBBP4 Gene

  1. Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein complex represses human cell cycle-dependent genes in quiescence. (PMID: 17531812) Litovchick L. … DeCaprio J.A. (Mol. Cell 2007) 2 3 4 67
  2. Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners. (PMID: 19759913) Montes de Oca R. … Wilson K.L. (PLoS ONE 2009) 3 23
  3. Analysis of interaction partners of H4 histone by a new proteomics approach. (PMID: 19862764) Saade E. … Ogryzko V. (Proteomics 2009) 3 23
  4. The role of retinoblastoma-associated proteins 46 and 48 in estrogen receptor alpha mediated gene expression. (PMID: 18577416) Creekmore A.L. … Nardulli A.M. (Mol. Cell. Endocrinol. 2008) 3 23
  5. Expression of the retinoblastoma protein RbAp48 in exocrine glands leads to SjAPgren's syndrome-like autoimmune exocrinopathy. (PMID: 19015307) Ishimaru N. … Hayashi Y. (J. Exp. Med. 2008) 3 23

Products for RBBP4 Gene

Sources for RBBP4 Gene

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