RBBP5

Chr 1q32.1

RB binding protein 5, histone lysine methyltransferase complex subunit

Aliases:: RBQ3, SWD1
MANE:: ENST00000264515.11

OMIM: 600697 ↗NCBI: 5929 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RBBP5 · Q15291

v62025-08-01

Predicted Aligned Error matrix for RBBP5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.8/ 100

Confident

538 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)17%
Low(50–70)8%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodevelopmental disorder
0.51
neurodegenerative disease
0.50
Intellectual disability
0.37
placental abruption
0.26
Abnormality of the skeletal system
0.22
digestive system neoplasm
0.19
coronary artery disorder
0.14
aortic stenosis
0.10
type 2 diabetes mellitus
0.08
melanoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Retinoblastoma-binding protein 5

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:21220120, PubMed:22266653)