RBBP5 (RB binding protein 5, histone lysine methyltransferase complex subunit)

2003-02-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
RBQ3,SWD1
FUSION GENES

Other Information

Locus ID:

NCBI: 5929
MIM: 600697
HGNC: 9888
Ensembl: ENSG00000117222

Variants:

dbSNP: 5929
ClinVar: 5929
TCGA: ENSG00000117222
COSMIC: RBBP5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117222ENST00000264515Q15291
ENSG00000117222ENST00000264515A0A024R9B5
ENSG00000117222ENST00000367164Q15291

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402
Developmental BiologyREACTOMER-HSA-1266738
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
166041562006Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis.80
211249022010An Ash2L/RbBP5 heterodimer stimulates the MLL1 methyltransferase activity through coordinated substrate interactions with the MLL1 SET domain.52
191313382009Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.37
222316282012Structure of the SPRY domain of human Ash2L and its interactions with RbBP5 and DPY30.19
246806682014A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.18
200858322010Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.17
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
242351452014Automethylation activities within the mixed lineage leukemia-1 (MLL1) core complex reveal evidence supporting a "two-active site" model for multiple histone H3 lysine 4 methylation.11
275665882016Role of RbBP5 and H3K4me3 in the vicinity of Snail transcription start site during epithelial-mesenchymal transition in prostate cancer cell.6
298976002018The structure of the RbBP5 β-propeller domain reveals a surface with potential nucleic acid binding sites.5

Citation

Dessen P

RBBP5 (RB binding protein 5, histone lysine methyltransferase complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42063/rbbp5