Gene Gene information from NCBI Gene database.
Entrez ID 5929
Gene name RB binding protein 5, histone lysine methyltransferase complex subunit
Gene symbol RBBP5
Synonyms (NCBI Gene)
RBQ3SWD1
Chromosome 1
Chromosome location 1q32.1
Summary 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 w
miRNA miRNA information provided by mirtarbase database.
1156
miRTarBase ID miRNA Experiments Reference
MIRT016367 hsa-miR-193b-3p Microarray 20304954
MIRT021974 hsa-miR-128-3p Microarray 17612493
MIRT023318 hsa-miR-122-5p Microarray 17612493
MIRT023722 hsa-miR-1-3p Proteomics 18668040
MIRT040532 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IDA 16603732
GO:0005515 Function Protein binding IPI 12482968, 14992727, 15199122, 15960975, 16603732, 16892064, 17041588, 17178841, 17500065, 17925232, 17998332, 18838538, 19131338, 19187761, 19556245, 20085832, 21220120, 21516116, 23414517, 23870121, 24981860, 25416956, 26496610, 26886794, 27705803, 32296183, 33961781, 37725512
GO:0005634 Component Nucleus IDA 15199122, 17500065
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600697 9888 ENSG00000117222
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15291
Protein name Retinoblastoma-binding protein 5 (RBBP-5) (Retinoblastoma-binding protein RBQ-3)
Protein 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
PDB 3P4F , 4X8N , 4X8P , 5F6K , 5F6L , 6KIU , 6KIV , 6KIW , 6KIX , 6KIZ , 6KM7 , 6PWV , 6PWW , 6PWX , 6W5I , 6W5M , 6W5N , 7BRE , 7MBM , 7MBN , 7UD5 , 7W67 , 7W6A , 7W6I , 7W6J , 7W6L , 8DU4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 58 94 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
MNLELLESFGQNYPEEADGTLDCISMALTCTFNRWGTLLAVGCNDGRIVIWDFLTRGIAK
IISAHIHPVCSLCWSRDGHKLVSASTDNIVSQWD
VLSGDCDQRFRFPSPILKVQYHPRDQ
NKVLVCPMKSAPVMLTLSDSKHVVLPVDDDSDLNVVASFDRRGEYIYTGNAKGKILVLKT
DSQDLVASFRVTTGTSNTTAIKSIEFARKGSCFLINTADRIIRVYDGREILTCGRDGEPE
PMQKLQDLVNRTPWKKCCFSGDGEYIVAGSARQHALYIWEKSIGNLVKILHGTRGELLLD
VAWHPVRPIIASISSGVVSIWAQNQVENWSAFAPDFKELDENVEYEERESEFDIEDEDKS
EPEQTGADAAEDEEVDVTSVDPIAAFCSSDEELEDSKALLYLPIAPEVEDPEENPYGPPP
DAVQTSLMDEGASSEKKRQSSADGSQPPKKKPKTTNIELQGVPNDEVHPLLGVKGDGKSK
KKQAGRPKGSKGKEKDSPFKPKLYKGDRGLPLEGSAKGKVQAELSQPLTAGGAISELL
Sequence length 538
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cushing syndrome   Formation of the beta-catenin:TCF transactivating complex
PKMTs methylate histone lysines
Deactivation of the beta-catenin transactivating complex
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 36835467 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30533424 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Restenosis Coronary restenosis Pubtator 35968900 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 20196086
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 26671109
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30533424
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 27566588
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 27189701
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 10626796, 30533424
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 27566588
★☆☆☆☆
Found in Text Mining only