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Protein

Retinoblastoma-binding protein 5

Gene

RBBP5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation.By similarity1 Publication

GO - Molecular functioni

  • histone-lysine N-methyltransferase activity Source: Reactome
  • methylated histone binding Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8951664 Neddylation
SignaLinkiQ15291
SIGNORiQ15291

Names & Taxonomyi

Protein namesi
Recommended name:
Retinoblastoma-binding protein 5
Short name:
RBBP-5
Alternative name(s):
Retinoblastoma-binding protein RBQ-3
Gene namesi
Name:RBBP5
Synonyms:RBQ3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117222.13
HGNCiHGNC:9888 RBBP5
MIMi600697 gene
neXtProtiNX_Q15291

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi5929
OpenTargetsiENSG00000117222
PharmGKBiPA34252

Chemistry databases

ChEMBLiCHEMBL3137282

Polymorphism and mutation databases

BioMutaiRBBP5
DMDMi209572664

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000511941 – 538Retinoblastoma-binding protein 5Add BLAST538

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki129Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei252Phosphothreonine; by CDK11 Publication1
Modified residuei350PhosphoserineCombined sources1
Modified residuei388PhosphoserineCombined sources1
Modified residuei389PhosphoserineCombined sources1
Modified residuei497Phosphoserine; by CDK11 Publication1
Modified residuei525PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ15291
MaxQBiQ15291
PaxDbiQ15291
PeptideAtlasiQ15291
PRIDEiQ15291

PTM databases

iPTMnetiQ15291
PhosphoSitePlusiQ15291

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000117222
CleanExiHS_RBBP5
ExpressionAtlasiQ15291 baseline and differential
GenevisibleiQ15291 HS

Organism-specific databases

HPAiHPA049042
HPA058085

Interactioni

Subunit structurei

Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4), and the facultative components PAGR1, BAP18, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, MYST1/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin. Interacts with WDR5 and ASH2L; the interaction is direct. Interacts with WDR82 and SETD1A. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • methylated histone binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111864, 84 interactors
CORUMiQ15291
DIPiDIP-29224N
IntActiQ15291, 47 interactors
MINTiQ15291
STRINGi9606.ENSP00000264515

Chemistry databases

BindingDBiQ15291

Structurei

Secondary structure

1538
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni349 – 352Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3P4FX-ray2.35B371-381[»]
4X8NX-ray2.10B347-356[»]
4X8PX-ray2.20B344-355[»]
5F6KX-ray2.41D/F330-356[»]
5F6LX-ray1.90J330-356[»]
ProteinModelPortaliQ15291
SMRiQ15291
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati22 – 63WD 1Add BLAST42
Repeati64 – 103WD 2Add BLAST40
Repeati148 – 188WD 3Add BLAST41
Repeati196 – 235WD 4Add BLAST40
Repeati249 – 291WD 5Add BLAST43
Repeati293 – 331WD 6Add BLAST39

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1273 Eukaryota
ENOG410XTA2 LUCA
GeneTreeiENSGT00530000064100
HOVERGENiHBG054324
InParanoidiQ15291
KOiK14961
OMAiFRMPILF
OrthoDBiEOG091G038T
PhylomeDBiQ15291
TreeFamiTF313289

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR037850 RBBP5/Swd1
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
PANTHERiPTHR44040 PTHR44040, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 5 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15291-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNLELLESFG QNYPEEADGT LDCISMALTC TFNRWGTLLA VGCNDGRIVI
60 70 80 90 100
WDFLTRGIAK IISAHIHPVC SLCWSRDGHK LVSASTDNIV SQWDVLSGDC
110 120 130 140 150
DQRFRFPSPI LKVQYHPRDQ NKVLVCPMKS APVMLTLSDS KHVVLPVDDD
160 170 180 190 200
SDLNVVASFD RRGEYIYTGN AKGKILVLKT DSQDLVASFR VTTGTSNTTA
210 220 230 240 250
IKSIEFARKG SCFLINTADR IIRVYDGREI LTCGRDGEPE PMQKLQDLVN
260 270 280 290 300
RTPWKKCCFS GDGEYIVAGS ARQHALYIWE KSIGNLVKIL HGTRGELLLD
310 320 330 340 350
VAWHPVRPII ASISSGVVSI WAQNQVENWS AFAPDFKELD ENVEYEERES
360 370 380 390 400
EFDIEDEDKS EPEQTGADAA EDEEVDVTSV DPIAAFCSSD EELEDSKALL
410 420 430 440 450
YLPIAPEVED PEENPYGPPP DAVQTSLMDE GASSEKKRQS SADGSQPPKK
460 470 480 490 500
KPKTTNIELQ GVPNDEVHPL LGVKGDGKSK KKQAGRPKGS KGKEKDSPFK
510 520 530
PKLYKGDRGL PLEGSAKGKV QAELSQPLTA GGAISELL
Length:538
Mass (Da):59,153
Last modified:October 14, 2008 - v2
Checksum:i095CCB41613CBED9
GO
Isoform 2 (identifier: Q15291-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     492-529: Missing.

Show »
Length:500
Mass (Da):55,072
Checksum:i45E9CCD4E2448FA5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti206F → Y in BAF82826 (PubMed:14702039).Curated1
Sequence conflicti244K → E in CAA59446 (PubMed:7558034).Curated1
Sequence conflicti351E → G in CAA59446 (PubMed:7558034).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035583492 – 529Missing in isoform 2. 2 PublicationsAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X85134 mRNA Translation: CAA59446.1
AK290137 mRNA Translation: BAF82826.1
AL583832, AC093422 Genomic DNA Translation: CAI15286.1
AL583832, AC093422 Genomic DNA Translation: CAI15287.1
CH471067 Genomic DNA Translation: EAW91537.1
CH471067 Genomic DNA Translation: EAW91538.1
BC037284 mRNA Translation: AAH37284.1
BC053856 mRNA Translation: AAH53856.1
BC075059 mRNA Translation: AAH75059.1
BC075060 mRNA Translation: AAH75060.1
CCDSiCCDS30983.1 [Q15291-1]
CCDS53463.1 [Q15291-2]
PIRiA57624
RefSeqiNP_001180201.1, NM_001193272.1 [Q15291-2]
NP_001180202.1, NM_001193273.1
NP_005048.2, NM_005057.3 [Q15291-1]
UniGeneiHs.519230

Genome annotation databases

EnsembliENST00000264515; ENSP00000264515; ENSG00000117222 [Q15291-1]
ENST00000367164; ENSP00000356132; ENSG00000117222 [Q15291-2]
GeneIDi5929
KEGGihsa:5929
UCSCiuc001hbu.3 human [Q15291-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRBBP5_HUMAN
AccessioniPrimary (citable) accession number: Q15291
Secondary accession number(s): A8K272, Q7Z6D8, Q8NDZ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: October 14, 2008
Last modified: April 25, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health