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Aliases for RBBP6 Gene

Aliases for RBBP6 Gene

  • Retinoblastoma Binding Protein 6 2 3 5
  • Proliferation Potential-Related Protein 2 3 4
  • Retinoblastoma-Binding Protein 6 2 3 4
  • P53-Associated Cellular Protein Of Testis 3 4
  • Retinoblastoma-Binding Q Protein 1 3 4
  • Protein P2P-R 3 4
  • RBQ-1 3 4
  • PACT 3 4
  • RB-Binding Q-Protein 1 3
  • EC 6.3.2.- 4
  • MY038 3
  • P2P-R 3
  • SNAMA 3
  • P2PR 4
  • RBQ1 4

External Ids for RBBP6 Gene

Previous GeneCards Identifiers for RBBP6 Gene

  • GC16P023966
  • GC16P024666
  • GC16P024494
  • GC16P024518
  • GC16P024517
  • GC16P022641

Summaries for RBBP6 Gene

Entrez Gene Summary for RBBP6 Gene

  • The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for RBBP6 Gene

RBBP6 (Retinoblastoma Binding Protein 6) is a Protein Coding gene. Diseases associated with RBBP6 include Retinoblastoma and Esophageal Cancer. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Immune System. GO annotations related to this gene include nucleic acid binding and ligase activity.

UniProtKB/Swiss-Prot for RBBP6 Gene

  • E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome (PubMed:18851979). May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of p53/TP53, leading to both apoptosis and cell growth (By similarity). Regulates DNA-replication and the stability of chromosomal common fragile sites (CFSs) in a ZBTB38- and MCM10-dependent manner. Controls ZBTB38 protein stability and abundance via ubiquitination and proteasomal degradation, and ZBTB38 in turn negatively regulates the expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359).

Gene Wiki entry for RBBP6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBBP6 Gene

Genomics for RBBP6 Gene

Regulatory Elements for RBBP6 Gene

Enhancers for RBBP6 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 RBBP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBBP6 Gene

Chromosome:
16
Start:
24,537,693 bp from pter
End:
24,572,863 bp from pter
Size:
35,171 bases
Orientation:
Plus strand

Genomic View for RBBP6 Gene

Genes around RBBP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBBP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBBP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBBP6 Gene

Proteins for RBBP6 Gene

  • Protein details for RBBP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6E9-RBBP6_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RBBP6
    Protein Accession:
    Q7Z6E9
    Secondary Accessions:
    • Q147T5
    • Q15290
    • Q6DKH4
    • Q6P4C2
    • Q6YNC9
    • Q7Z6E8
    • Q8N0V2
    • Q96PH3
    • Q9H3I8
    • Q9H5M5
    • Q9NPX4

    Protein attributes for RBBP6 Gene

    Size:
    1792 amino acids
    Molecular mass:
    201564 Da
    Quaternary structure:
    • Interacts with p53/TP53 and RB1 (By similarity). Interacts also with MDM2 and YBX1. Interacts with NEK6. Interacts with ZBTB38.
    SequenceCaution:
    • Sequence=AAG43155.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAH63524.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAL05625.1; Type=Frameshift; Positions=198; Evidence={ECO:0000305}; Sequence=AAL68925.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAA59445.1; Type=Frameshift; Positions=198, 1048, 1098; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBBP6 Gene

    Alternative splice isoforms for RBBP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBBP6 Gene

Proteomics data for RBBP6 Gene at MOPED

Post-translational modifications for RBBP6 Gene

No data available for DME Specific Peptides for RBBP6 Gene

Domains & Families for RBBP6 Gene

Suggested Antigen Peptide Sequences for RBBP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z6E9

UniProtKB/Swiss-Prot:

RBBP6_HUMAN :
  • Contains 1 DWNN domain.
  • Contains 1 CCHC-type zinc finger.
Domain:
  • Contains 1 DWNN domain.
Similarity:
  • Contains 1 CCHC-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RBBP6: view

No data available for Gene Families for RBBP6 Gene

Function for RBBP6 Gene

Molecular function for RBBP6 Gene

GENATLAS Biochemistry:
RB1 binding nuclear protein (140kDa)
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome (PubMed:18851979). May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of p53/TP53, leading to both apoptosis and cell growth (By similarity). Regulates DNA-replication and the stability of chromosomal common fragile sites (CFSs) in a ZBTB38- and MCM10-dependent manner. Controls ZBTB38 protein stability and abundance via ubiquitination and proteasomal degradation, and ZBTB38 in turn negatively regulates the expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359).

Enzyme Numbers (IUBMB) for RBBP6 Gene

Gene Ontology (GO) - Molecular Function for RBBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA,TAS --
GO:0016874 ligase activity IEA --
GO:0061630 ubiquitin protein ligase activity IMP 24726359
genes like me logo Genes that share ontologies with RBBP6: view
genes like me logo Genes that share phenotypes with RBBP6: view

Animal Models for RBBP6 Gene

MGI Knock Outs for RBBP6:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBBP6 Gene

Localization for RBBP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP6 Gene

Nucleus, nucleolus. Chromosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with mitotic chromosomes. Colocalizes with NEK6 in the centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBBP6 Gene COMPARTMENTS Subcellular localization image for RBBP6 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RBBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with RBBP6: view

Pathways & Interactions for RBBP6 Gene

genes like me logo Genes that share pathways with RBBP6: view

UniProtKB/Swiss-Prot Q7Z6E9-RBBP6_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RBBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006260 DNA replication IEA --
GO:0006275 regulation of DNA replication IMP 24726359
GO:0006974 cellular response to DNA damage stimulus IMP 24726359
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with RBBP6: view

No data available for SIGNOR curated interactions for RBBP6 Gene

Drugs & Compounds for RBBP6 Gene

No Compound Related Data Available

Transcripts for RBBP6 Gene

Unigene Clusters for RBBP6 Gene

Retinoblastoma binding protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBBP6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: -
SP4: - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - -
SP7:
SP8: -
SP9:
SP10: -
SP11: -
SP12:
SP13:
SP14:

ExUns: 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for RBBP6 Gene

GeneLoc Exon Structure for
RBBP6
ECgene alternative splicing isoforms for
RBBP6

Expression for RBBP6 Gene

mRNA expression in normal human tissues for RBBP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBBP6 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (62.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBBP6 Gene



SOURCE GeneReport for Unigene cluster for RBBP6 Gene Hs.188553

mRNA Expression by UniProt/SwissProt for RBBP6 Gene

Q7Z6E9-RBBP6_HUMAN
Tissue specificity: Highly expressed in the placenta and testis. Expressed at lower levels in the brain, heart, kidney, liver and lung. Overexpressed in esophageal cancer.
genes like me logo Genes that share expression patterns with RBBP6: view

Protein tissue co-expression partners for RBBP6 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for RBBP6 Gene

Orthologs for RBBP6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RBBP6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBBP6 35
  • 92.02 (n)
  • 94.47 (a)
RBBP6 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBBP6 35
  • 92.11 (n)
  • 94.6 (a)
RBBP6 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbbp6 35
  • 85.69 (n)
  • 88.69 (a)
Rbbp6 16
Rbbp6 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBBP6 35
  • 99.5 (n)
  • 99.66 (a)
RBBP6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbbp6 35
  • 86.91 (n)
  • 89.09 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RBBP6 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBBP6 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBBP6 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75882 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34117 35
zebrafish
(Danio rerio)
Actinopterygii Dr.18039 35
rbbp6 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta snama 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbpl-1 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPE1 36
  • 27 (a)
OneToOne
MPE1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for RBBP6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBBP6 Gene

ENSEMBL:
Gene Tree for RBBP6 (if available)
TreeFam:
Gene Tree for RBBP6 (if available)

Paralogs for RBBP6 Gene

(2) SIMAP similar genes for RBBP6 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for RBBP6 Gene

genes like me logo Genes that share paralogs with RBBP6: view

No data available for Paralogs for RBBP6 Gene

Variants for RBBP6 Gene

Sequence variations from dbSNP and Humsavar for RBBP6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs16973840 - 24,567,217(+) TCCAG(C/T)CTTTG reference, missense
rs16973796 - 24,540,753(+) CTGCC(C/G)ACTGC reference, missense
rs3743968 - 24,570,313(-) TGATT(A/T)TTTTG reference, missense
rs7593 -- 24,572,085(+) AAAGC(A/G)AAAGA reference, synonymous-codon
rs8064215 -- 24,538,802(+) ATTTC(G/T)GTGCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RBBP6 Gene

Variant ID Type Subtype PubMed ID
nsv1769 CNV Loss 18451855

Variation tolerance for RBBP6 Gene

Residual Variation Intolerance Score: 1.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.53% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RBBP6 Gene

Disorders for RBBP6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RBBP6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • retinoblastoma, trilateral
esophageal cancer
  • esophageal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search RBBP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBBP6

Genetic Association Database (GAD)
RBBP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBBP6
genes like me logo Genes that share disorders with RBBP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBBP6 Gene

Publications for RBBP6 Gene

  1. cDNA sequence and chromosomal localization of a novel human protein, RBQ-1 (RBBP6), that binds to the retinoblastoma gene product. (PMID: 8595913) Sakai Y. … Taya Y. (Genomics 1995) 2 3 4 23 67
  2. DWNN, a novel ubiquitin-like domain, implicates RBBP6 in mRNA processing and ubiquitin-like pathways. (PMID: 16396680) Pugh D.J.R. … Rees D.J.G. (BMC Struct. Biol. 2006) 2 3
  3. Proliferation potential-related protein, an ideal esophageal cancer antigen for immunotherapy, identified using complementary DNA microarray analysis. (PMID: 15475430) Yoshitake Y. … Nishimura Y. (Clin. Cancer Res. 2004) 3 23
  4. Microtubule-associated proteins 1 (MAP1) promote human immunodeficiency virus type I (HIV-1) intracytoplasmic routing to the nucleus. (PMID: 25505242) Fernandez J. … Arhel N.J. (J. Biol. Chem. 2015) 3
  5. The association of RBBP6 variant 3 expressions with apoptosis in human immunodeficiency virus-associated nephropathy (HIVAN). (PMID: 25910411) Mbita Z. … Dlamini Z. (Exp. Mol. Pathol. 2015) 3

Products for RBBP6 Gene

Sources for RBBP6 Gene

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