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Aliases for RBBP9 Gene

Aliases for RBBP9 Gene

  • RB Binding Protein 9, Serine Hydrolase 2 3 5
  • Retinoblastoma-Binding Protein 9 2 3 4
  • Retinoblastoma-Binding Protein 10 3 4
  • RBBP-10 3 4
  • RBBP-9 3 4
  • RBBP10 3 4
  • BOG 3 4
  • Retinoblastoma Binding Protein 9 2
  • B5T Overexpressed Gene Protein 3
  • B5T-Overexpressed Gene Protein 4
  • Retinoma-Binding Protein 9 3
  • Putative Hydrolase RBBP9 3
  • Protein BOG 4
  • EC 3.-.-.- 4

External Ids for RBBP9 Gene

Previous GeneCards Identifiers for RBBP9 Gene

  • GC20M018455
  • GC20M018462

Summaries for RBBP9 Gene

Entrez Gene Summary for RBBP9 Gene

  • The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]

GeneCards Summary for RBBP9 Gene

RBBP9 (RB Binding Protein 9, Serine Hydrolase) is a Protein Coding gene. Diseases associated with RBBP9 include Retinoblastoma and Corneal Dystrophy, Posterior Polymorphous, 1. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

UniProtKB/Swiss-Prot for RBBP9 Gene

  • May play a role in the transformation process due to its capacity to confer resistance to the growth-inhibitory effects of TGF-beta1 through interaction with retinoblastoma and the subsequent displacement of E2F-1.

Gene Wiki entry for RBBP9 Gene

Additional gene information for RBBP9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBBP9 Gene

Genomics for RBBP9 Gene

GeneHancer (GH) Regulatory Elements for RBBP9 Gene

Promoters and enhancers for RBBP9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J018506 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.4 -10.5 -10453 2.2 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 SEC23B RBBP9 SMIM26 LOC100270804 DZANK1 POLR3F RN7SKP74 GC20P018562
GH20J018496 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.2 193 1.6 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 ZNF207 RBBP9 SEC23B SMIM26 RPL21P3
GH20J018566 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.2 -70.3 -70305 2.1 HDGF PKNOX1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 SMIM26 ENSG00000284776 DTD1 SEC23B RBBP9 POLR3F DZANK1
GH20J018428 Enhancer 0.8 ENCODE 11.7 +68.3 68283 0.2 FOXA2 MZF1 FEZF1 RAD21 YY1 ZNF366 ZSCAN5C KLF7 ZNF680 YY2 DZANK1 POLR3F RBBP9 RNA5SP476 GCNT1P1
GH20J017656 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 9.9 +840.0 840036 0.6 POLR2A PLRG1 PRDM1 BANF2 RRBP1 ZNF133 RBBP9 PIR52551 PIR38595
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBBP9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RBBP9 gene promoter:
  • STAT5B
  • AREB6
  • Nkx2-5
  • GATA-2
  • CBF-A
  • CBF(2)
  • RORalpha2
  • CP1A
  • CBF-B

Genomic Locations for RBBP9 Gene

Genomic Locations for RBBP9 Gene
chr20:18,486,540-18,497,255
(GRCh38/hg38)
Size:
10,716 bases
Orientation:
Minus strand
chr20:18,467,184-18,477,887
(GRCh37/hg19)
Size:
10,704 bases
Orientation:
Minus strand

Genomic View for RBBP9 Gene

Genes around RBBP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBBP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBBP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBBP9 Gene

Proteins for RBBP9 Gene

  • Protein details for RBBP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75884-RBBP9_HUMAN
    Recommended name:
    Putative hydrolase RBBP9
    Protein Accession:
    O75884
    Secondary Accessions:
    • D3DW31
    • Q5JPH9
    • Q9H1D8

    Protein attributes for RBBP9 Gene

    Size:
    186 amino acids
    Molecular mass:
    21000 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Interacts with the serine hydrolase-directed activity-based probe fluorophosphonate-rhodamine (FP-rhodamine). This interaction is inhibited selectively and reversibly by emetine, a compound with cytotoxic activity.

    Three dimensional structures from OCA and Proteopedia for RBBP9 Gene

    Alternative splice isoforms for RBBP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBBP9 Gene

Post-translational modifications for RBBP9 Gene

  • Ubiquitination at Lys156
  • Modification sites at PhosphoSitePlus

Other Protein References for RBBP9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBBP9 Gene

Domains & Families for RBBP9 Gene

Gene Families for RBBP9 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBBP9 Gene

Suggested Antigen Peptide Sequences for RBBP9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75884

UniProtKB/Swiss-Prot:

RBBP9_HUMAN :
  • Belongs to the RBBP9 family.
Family:
  • Belongs to the RBBP9 family.
genes like me logo Genes that share domains with RBBP9: view

Function for RBBP9 Gene

Molecular function for RBBP9 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the transformation process due to its capacity to confer resistance to the growth-inhibitory effects of TGF-beta1 through interaction with retinoblastoma and the subsequent displacement of E2F-1.
GENATLAS Biochemistry:
Bog,retinoblastoma binding protein,murine Bog homolog,inhibiting TGFB1 activity by displacing E2F1 when overexpressed

Enzyme Numbers (IUBMB) for RBBP9 Gene

Gene Ontology (GO) - Molecular Function for RBBP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RBBP9: view
genes like me logo Genes that share phenotypes with RBBP9: view

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBBP9 Gene

Localization for RBBP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP9 Gene

Cytoplasm. Nucleus.

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 RBBP9 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBBP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with RBBP9: view

Pathways & Interactions for RBBP9 Gene

SuperPathways for RBBP9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBBP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042127 regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with RBBP9: view

No data available for Pathways by source and SIGNOR curated interactions for RBBP9 Gene

Drugs & Compounds for RBBP9 Gene

No Compound Related Data Available

Transcripts for RBBP9 Gene

mRNA/cDNA for RBBP9 Gene

Unigene Clusters for RBBP9 Gene

Retinoblastoma binding protein 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBBP9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1:
SP2: -
SP3: - -
SP4: - -

Relevant External Links for RBBP9 Gene

GeneLoc Exon Structure for
RBBP9
ECgene alternative splicing isoforms for
RBBP9

Expression for RBBP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBBP9 Gene

Protein differential expression in normal tissues from HIPED for RBBP9 Gene

This gene is overexpressed in Oral epithelium (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBBP9 Gene



Protein tissue co-expression partners for RBBP9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBBP9 Gene:

RBBP9

SOURCE GeneReport for Unigene cluster for RBBP9 Gene:

Hs.69330

mRNA Expression by UniProt/SwissProt for RBBP9 Gene:

O75884-RBBP9_HUMAN
Tissue specificity: Widely expressed. Expressed at higher levels in tumor tissues than in normal tissues.

Evidence on tissue expression from TISSUES for RBBP9 Gene

  • Liver(4.3)
  • Skin(4.2)
  • Nervous system(4.2)
  • Lymph node(4.1)
genes like me logo Genes that share expression patterns with RBBP9: 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 RBBP9 Gene

Orthologs for RBBP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBBP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBBP9 34 33
  • 99.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbbp9 16 34 33
  • 92.07 (n)
dog
(Canis familiaris)
Mammalia RBBP9 34 33
  • 90.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbbp9 33
  • 90.84 (n)
cow
(Bos Taurus)
Mammalia RBBP9 34 33
  • 87.16 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBBP9 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491567 33
  • 69.83 (n)
zebrafish
(Danio rerio)
Actinopterygii rbbp9 34 33
  • 67.8 (n)
OneToOne
wufd05g11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.792 33
Species where no ortholog for RBBP9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBBP9 Gene

ENSEMBL:
Gene Tree for RBBP9 (if available)
TreeFam:
Gene Tree for RBBP9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBBP9: view image

Paralogs for RBBP9 Gene

No data available for Paralogs for RBBP9 Gene

Variants for RBBP9 Gene

Sequence variations from dbSNP and Humsavar for RBBP9 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000027169 -- 18,493,291(-) A/C intron_variant
rs1000490220 -- 18,494,608(-) G/A intron_variant
rs1000621488 -- 18,486,457(-) C/G downstream_transcript_variant
rs1000817341 -- 18,498,320(-) T/C upstream_transcript_variant
rs1000842832 -- 18,494,273(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RBBP9 Gene

Variant ID Type Subtype PubMed ID
dgv4283n100 CNV loss 25217958
nsv1062244 CNV gain 25217958

Variation tolerance for RBBP9 Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBBP9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBBP9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBBP9 Gene

Disorders for RBBP9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBBP9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • rb1
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
- elite association - COSMIC cancer census association via MalaCards
Search RBBP9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBBP9

genes like me logo Genes that share disorders with RBBP9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBBP9 Gene

Publications for RBBP9 Gene

  1. A retinoblastoma-binding protein that affects cell-cycle control and confers transforming ability. (PMID: 9697699) Woitach JT … Thorgeirsson SS (Nature genetics 1998) 2 3 4 22 58
  2. RBBP9: a tumor-associated serine hydrolase activity required for pancreatic neoplasia. (PMID: 20080647) Shields DJ … Cheresh DA (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 22 58
  3. Cloning and expression of a novel retinoblastoma binding protein cDNA, RBBP10. (PMID: 12296629) Chen JZ … Ma YM (Biochemical genetics 2002) 3 4 22 58
  4. Assignment of the Bog gene (RBBP9) to syntenic regions of mouse chromosome 2G1-H1 and human chromosome 20p11.2 by fluorescence in situ hybridization. (PMID: 10449909) Woitach JT … Thorgeirsson SS (Cytogenetics and cell genetics 1999) 2 3 22 58
  5. Crystal structure of human retinoblastoma binding protein 9. (PMID: 19004028) Vorobiev SM … Tong L (Proteins 2009) 3 4 58

Products for RBBP9 Gene

Sources for RBBP9 Gene

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