This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript varia... See more...

Aliases for RBBP5 Gene

Aliases for RBBP5 Gene

  • RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit 2 3 5
  • Retinoblastoma-Binding Protein 5 2 3 4
  • RBQ3 2 3 4
  • Retinoblastoma-Binding Protein RBQ-3 3 4
  • RBBP-5 3 4
  • SWD1 2 3
  • SWD1, Set1c WD40 Repeat Protein, Homolog (S. Cerevisiae) 2
  • SWD1, Set1c WD40 Repeat Protein, Homolog 3
  • Retinoblastoma Binding Protein 5 2
  • RBBP5 5

External Ids for RBBP5 Gene

Previous GeneCards Identifiers for RBBP5 Gene

  • GC01M202782
  • GC01M200517
  • GC01M201415
  • GC01M202233
  • GC01M201787
  • GC01M203321
  • GC01M176220

Summaries for RBBP5 Gene

Entrez Gene Summary for RBBP5 Gene

  • This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for RBBP5 Gene

RBBP5 (RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit) is a Protein Coding gene. Diseases associated with RBBP5 include Retinoblastoma and Kabuki Syndrome 1. Among its related pathways are Signaling by GPCR and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is VPS8.

UniProtKB/Swiss-Prot Summary for RBBP5 Gene

  • In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). Does not affect ES cell self-renewal (By similarity). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3 (PubMed:19556245). Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:19556245). In association with ASH2L and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:22266653, PubMed:21220120).

Gene Wiki entry for RBBP5 Gene

Additional gene information for RBBP5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBBP5 Gene

Genomics for RBBP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RBBP5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBBP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBBP5

Top Transcription factor binding sites by QIAGEN in the RBBP5 gene promoter:
  • CUTL1
  • Evi-1
  • GR
  • GR-alpha
  • GR-beta
  • Lmo2
  • NRF-2
  • POU6F1 (c2)
  • RFX1
  • XBP-1

Genomic Locations for RBBP5 Gene

Genomic Locations for RBBP5 Gene
chr1:205,086,142-205,122,015
(GRCh38/hg38)
Size:
35,874 bases
Orientation:
Minus strand
chr1:205,055,270-205,091,150
(GRCh37/hg19)
Size:
35,881 bases
Orientation:
Minus strand

Genomic View for RBBP5 Gene

Genes around RBBP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBBP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBBP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBBP5 Gene

Proteins for RBBP5 Gene

  • Protein details for RBBP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15291-RBBP5_HUMAN
    Recommended name:
    Retinoblastoma-binding protein 5
    Protein Accession:
    Q15291
    Secondary Accessions:
    • A8K272
    • Q7Z6D8
    • Q8NDZ7

    Protein attributes for RBBP5 Gene

    Size:
    538 amino acids
    Molecular mass:
    59153 Da
    Quaternary structure:
    • Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30 (PubMed:16253997, PubMed:17355966, PubMed:17998332, PubMed:18838538). Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7 (PubMed:15199122, PubMed:15960975, PubMed:17500065). Each complex is at least composed of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4), and the facultative components PAGR1, BAP18, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, MYST1/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin (PubMed:14992727, PubMed:15199122, PubMed:15960975, PubMed:17500065). Component of a histone methylation complex composed of at least ZNF335, RBBP5, ASH2L and WDR5; the complex may have histone H3-specific methyltransferase activity, however does not have specificity for 'Lys-4' of histone H3 (PubMed:19131338). Interacts with ZNF335 (PubMed:19131338, PubMed:23178126). Interacts with ASH2L; the interaction is direct (PubMed:19131338, PubMed:19556245, PubMed:21220120). Interacts with WDR5; the interaction is direct (PubMed:19556245, PubMed:21220120). Components of the ZNF335-RBBP5-ASH2L-WDR5 histone methylation complex may associate with components of a nuclear receptor-mediated transcription complex to form a complex at least composed of ZNF335, HCFC1, CCAR2, EMSY, MKI67, RBBP5, ASH2L and WDR5 (PubMed:19131338). Within this complex interacts with EMSY (PubMed:19131338). Found in a complex with RBBP5, ASH2L, DPY30, KMT2A, KMT2D and WDR5 (By similarity). Interacts with SETD1A (PubMed:17998332). Interacts with WDR82 (PubMed:18838538).

    Three dimensional structures from OCA and Proteopedia for RBBP5 Gene

    Alternative splice isoforms for RBBP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBBP5 Gene

Post-translational modifications for RBBP5 Gene

  • Ubiquitination at Lys244
  • Modification sites at PhosphoSitePlus

Other Protein References for RBBP5 Gene

No data available for DME Specific Peptides for RBBP5 Gene

Domains & Families for RBBP5 Gene

Gene Families for RBBP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBBP5 Gene

Suggested Antigen Peptide Sequences for RBBP5 Gene

GenScript: Design optimal peptide antigens:
  • Retinoblastoma-binding protein RBQ-3 (RBBP5_HUMAN)
genes like me logo Genes that share domains with RBBP5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBBP5 Gene

Function for RBBP5 Gene

Molecular function for RBBP5 Gene

UniProtKB/Swiss-Prot Function:
In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). Does not affect ES cell self-renewal (By similarity). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3 (PubMed:19556245). Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:19556245). In association with ASH2L and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:22266653, PubMed:21220120).
GENATLAS Biochemistry:
RB1 binding nuclear protein 5,with homology to TF2B

Phenotypes From GWAS Catalog for RBBP5 Gene

Gene Ontology (GO) - Molecular Function for RBBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 16603732
GO:0005515 protein binding IPI 12482968
GO:0035064 methylated histone binding IDA 15960975
GO:0042800 contributes_to histone methyltransferase activity (H3-K4 specific) IDA 17355966
GO:0044212 transcription regulatory region DNA binding IDA --
genes like me logo Genes that share ontologies with RBBP5: view
genes like me logo Genes that share phenotypes with RBBP5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBBP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBBP5 Gene

Localization for RBBP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBBP5 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15199122
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0035097 histone methyltransferase complex IPI 14992727
GO:0044666 MLL3/4 complex IDA 17500065
genes like me logo Genes that share ontologies with RBBP5: view

Pathways & Interactions for RBBP5 Gene

genes like me logo Genes that share pathways with RBBP5: view

Gene Ontology (GO) - Biological Process for RBBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 17500065
GO:0043627 response to estrogen IDA 16603732
GO:0043687 post-translational protein modification TAS --
GO:0045652 regulation of megakaryocyte differentiation TAS --
genes like me logo Genes that share ontologies with RBBP5: view

No data available for SIGNOR curated interactions for RBBP5 Gene

Drugs & Compounds for RBBP5 Gene

No Compound Related Data Available

Transcripts for RBBP5 Gene

mRNA/cDNA for RBBP5 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBBP5

Alternative Splicing Database (ASD) splice patterns (SP) for RBBP5 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
SP1:
SP2: -
SP3: -
SP4: - - -
SP5:
SP6:
SP7:

Relevant External Links for RBBP5 Gene

GeneLoc Exon Structure for
RBBP5

Expression for RBBP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBBP5 Gene

Protein differential expression in normal tissues from HIPED for RBBP5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.2), Cerebrospinal fluid (8.8), and Plasma (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RBBP5 Gene



Protein tissue co-expression partners for RBBP5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBBP5

SOURCE GeneReport for Unigene cluster for RBBP5 Gene:

Hs.519230

mRNA Expression by UniProt/SwissProt for RBBP5 Gene:

Q15291-RBBP5_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for RBBP5 Gene

  • Nervous system(4.6)
  • Blood(2.4)
  • Kidney(2.4)
  • Muscle(2.1)
  • Skin(2.1)
  • Intestine(2.1)
  • Liver(2.1)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with RBBP5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBBP5 Gene

Orthologs for RBBP5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBBP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RBBP5 30 31
  • 99.01 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RBBP5 31
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RBBP5 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RBBP5 30 31
  • 95.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RBBP5 30 31
  • 95.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rbbp5 30
  • 92.94 (n)
Mouse
(Mus musculus)
Mammalia Rbbp5 30 17 31
  • 92.63 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RBBP5 30 31
  • 83.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RBBP5 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rbbp5 30
  • 77.1 (n)
Str.20150 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7100 30
Zebrafish
(Danio rerio)
Actinopterygii rbbp5 30 31
  • 74.98 (n)
OneToOne
zgc56078 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6886 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5585 32
  • 66 (a)
CG6434 31 32
  • 61 (a)
OneToMany
Rbbp5 30 31
  • 60.59 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010575 30
  • 60.66 (n)
Worm
(Caenorhabditis elegans)
Secernentea F21H12.1 30 32
  • 53.55 (n)
rbbp-5 31
  • 41 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWD1 30 31 33
  • 46.23 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08800g 30
  • 45.81 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL006C 30
  • 42.58 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G21060 30
  • 51.07 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0207900 30
  • 48.87 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5246 31
  • 69 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes swd1 30
  • 50.14 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02104 30
  • 46.98 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2695 30
Species where no ortholog for RBBP5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RBBP5 Gene

ENSEMBL:
Gene Tree for RBBP5 (if available)
TreeFam:
Gene Tree for RBBP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBBP5: view image

Paralogs for RBBP5 Gene

Paralogs for RBBP5 Gene

genes like me logo Genes that share paralogs with RBBP5: view

Variants for RBBP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBBP5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
719895 Benign: not provided 205,103,941(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RBBP5 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBBP5 Gene

Variant ID Type Subtype PubMed ID
dgv563n100 CNV gain 25217958
nsv468016 CNV loss 19166990
nsv549042 CNV loss 21841781
nsv819953 CNV loss 19587683

Variation tolerance for RBBP5 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBBP5 Gene

Human Gene Mutation Database (HGMD)
RBBP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBBP5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBBP5 Gene

Disorders for RBBP5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RBBP5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • rb1
kabuki syndrome 1
  • kms
multiple endocrine neoplasia, type i
  • men1
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search RBBP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBBP5

genes like me logo Genes that share disorders with RBBP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBBP5 Gene

Publications for RBBP5 Gene

  1. Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping. (PMID: 7558034) Saijo M … Taya Y (Genomics 1995) 2 3 4
  2. Structural and biochemical insights into MLL1 core complex assembly. (PMID: 21220120) Avdic V … Couture JF (Structure (London, England : 1993) 2011) 3 4
  3. On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex. (PMID: 19556245) Patel A … Cosgrove MS (The Journal of biological chemistry 2009) 3 4
  4. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S … Samuels HH (The Journal of biological chemistry 2009) 3 4
  5. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PMID: 18838538) Wu M … Shilatifard A (Molecular and cellular biology 2008) 3 4

Products for RBBP5 Gene