RBBP5
Retinoblastoma-binding protein 5
Also known as: RBBP5_HUMAN, RBQ3, SWD1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15291
- Gene
- RBBP5
- Ensembl
- ENSG00000117222
- Chromosome
- 1
- Canonical length
- 538 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
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 with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
Canonical amino-acid sequenceUniProt
538 residues, UniProt reviewed canonical sequence.
>Q15291|RBBP5
1 MNLELLESFG QNYPEEADGT LDCISMALTC TFNRWGTLLA VGCNDGRIVI WDFLTRGIAK
61 IISAHIHPVC SLCWSRDGHK LVSASTDNIV SQWDVLSGDC DQRFRFPSPI LKVQYHPRDQ
121 NKVLVCPMKS APVMLTLSDS KHVVLPVDDD SDLNVVASFD RRGEYIYTGN AKGKILVLKT
181 DSQDLVASFR VTTGTSNTTA IKSIEFARKG SCFLINTADR IIRVYDGREI LTCGRDGEPE
241 PMQKLQDLVN RTPWKKCCFS GDGEYIVAGS ARQHALYIWE KSIGNLVKIL HGTRGELLLD
301 VAWHPVRPII ASISSGVVSI WAQNQVENWS AFAPDFKELD ENVEYEERES EFDIEDEDKS
361 EPEQTGADAA EDEEVDVTSV DPIAAFCSSD EELEDSKALL YLPIAPEVED PEENPYGPPP
421 DAVQTSLMDE GASSEKKRQS SADGSQPPKK KPKTTNIELQ GVPNDEVHPL LGVKGDGKSK
481 KKQAGRPKGS KGKEKDSPFK PKLYKGDRGL PLEGSAKGKV QAELSQPLTA GGAISELLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RBBP5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- thymus: 12 nTPM
- tonsil: 12 nTPM
- kidney: 12 nTPM
- lymph node: 11 nTPM
- liver: 10 nTPM
- thyroid gland: 9.2 nTPM
Single-cell type
- neutrophils: 85 nCPM
- thymocytes: 57 nCPM
- neutrophil progenitors: 48 nCPM
- erythrocyte progenitors: 48 nCPM
- corticotrophs: 44 nCPM
- t-cells: 44 nCPM
Immune cell
- basophil: 22 nTPM
- neutrophil: 12 nTPM
- naive CD8 T-cell: 8.7 nTPM
- MAIT T-cell: 8.5 nTPM
- non-classical monocyte: 8.3 nTPM
- NK-cell: 8.2 nTPM
Brain region
- cerebellum: 19 nTPM
- white matter: 19 nTPM
- cerebral cortex: 18 nTPM
- hippocampal formation: 18 nTPM
- hypothalamus: 17 nTPM
- basal ganglia: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RBBP5.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 41 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- RBBP5-related syndromic neurodevelopmental condition
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.59
- DepMap mean gene effect
- -0.95
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD domain, G-beta repeat
- Retinoblastoma-binding protein 5/Swd1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RBBP5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RBBP5 as an antibody target. Whether an autoantibody or antibody against RBBP5 could matter depends on whether native RBBP5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RBBP5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RBBP5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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