RBBP7
Histone-binding protein RBBP7
Also known as: RbAp46, RBBP7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16576
- Gene
- RBBP7
- Ensembl
- ENSG00000102054
- Chromosome
- X
- Canonical length
- 425 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
425 residues, UniProt reviewed canonical sequence.
>Q16576|RBBP7
1 MASKEMFEDT VEERVINEEY KIWKKNTPFL YDLVMTHALQ WPSLTVQWLP EVTKPEGKDY
61 ALHWLVLGTH TSDEQNHLVV ARVHIPNDDA QFDASHCDSD KGEFGGFGSV TGKIECEIKI
121 NHEGEVNRAR YMPQNPHIIA TKTPSSDVLV FDYTKHPAKP DPSGECNPDL RLRGHQKEGY
181 GLSWNSNLSG HLLSASDDHT VCLWDINAGP KEGKIVDAKA IFTGHSAVVE DVAWHLLHES
241 LFGSVADDQK LMIWDTRSNT TSKPSHLVDA HTAEVNCLSF NPYSEFILAT GSADKTVALW
301 DLRNLKLKLH TFESHKDEIF QVHWSPHNET ILASSGTDRR LNVWDLSKIG EEQSAEDAED
361 GPPELLFIHG GHTAKISDFS WNPNEPWVIC SVSEDNIMQI WQMAENIYND EESDVTTSEL
421 EGQGSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RBBP7 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)
- 0.26
- Highest tissue expression
- 278 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 278 nTPM
- adrenal gland: 265 nTPM
- parathyroid gland: 182 nTPM
- seminal vesicle: 157 nTPM
- skeletal muscle: 127 nTPM
- cervix: 125 nTPM
Single-cell type
- syncytiotrophoblasts: 621 nCPM
- cytotrophoblasts: 530 nCPM
- epididymal principal cells: 458 nCPM
- migrating cytotrophoblasts: 398 nCPM
- oocytes: 327 nCPM
- adrenal cortex cells: 247 nCPM
Immune cell
- non-classical monocyte: 112 nTPM
- memory B-cell: 92 nTPM
- memory CD8 T-cell: 89 nTPM
- NK-cell: 89 nTPM
- gdT-cell: 85 nTPM
- naive CD8 T-cell: 83 nTPM
Brain region
- choroid plexus: 64 nTPM
- basal ganglia: 54 nTPM
- white matter: 49 nTPM
- cerebral cortex: 49 nTPM
- hypothalamus: 45 nTPM
- spinal cord: 42 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RBBP7.
Disease | AllUniProt
Conditions RBBP7 is implicated in, by any mechanism.
- Spermatogenic failure, X-linked, 9 (SPGFX9) MIM:301137
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 144 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure, X-linked, 9
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)
- 0.28
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.79
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- cellular heat acclimation
- chromatin remodeling
- DNA replication
- negative regulation of cell growth
- negative regulation of cell migration
- negative regulation of DNA-templated transcription
- negative regulation of stem cell population maintenance
- negative regulation of transcription by RNA polymerase II
- negative regulation of transforming growth factor beta receptor signaling pathway
- positive regulation of DNA-templated transcription
- positive regulation of stem cell population maintenance
- regulation of cell fate specification
- regulation of DNA-templated transcription
- regulation of stem cell differentiation
- response to steroid hormone
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- PAC1/LIS1-like, WD-40 repeat
- Histone-binding protein RBBP4-like, N-terminal
- WD40-repeat-containing domain superfamily
- WD repeat RBAP46/RBAP48/MSI1
- WD domain, G-beta repeat
- Histone-binding protein RBBP4 or subunit C of CAF1 complex
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RBBP7 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 RBBP7 as an antibody target. Whether an autoantibody or antibody against RBBP7 could matter depends on whether native RBBP7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RBBP7 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 RBBP7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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