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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]
RBBP7 (RB Binding Protein 7, Chromatin Remodeling Factor) is a Protein Coding gene. Diseases associated with RBBP7 include Retinoblastoma and Hemophagocytic Lymphohistiocytosis, Familial, 1. Among its related pathways are Regulation of TP53 Activity through Acetylation and Chromatin organization. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is RBBP4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 7503932 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 22720776 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0016581 | NuRD complex | IEA,IDA | 19644445 |
GO:0035098 | ESC/E(Z) complex | IDA | 20075857 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Cellular Senescence (REACTOME) | ||
3 | Chromatin organization | ||
4 | Chromosome Maintenance | ||
5 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Development Notch Signaling Pathway
.55
Development NOTCH1-mediated pathway for NF-KB activity modulation
.55
|
Transcription Sin3 and NuRD in transcription regulation
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006260 | DNA replication | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0030308 | negative regulation of cell growth | IDA | 9765217 |
GO:0034080 | CENP-A containing nucleosome assembly | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - |
ExUns: | 13b | · | 13c |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: | |||
SP11: | |||
SP12: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RBBP7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RBBP7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RBBP7 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RBBP7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rbbp7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rbbp7 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RBBP7 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RBBP7 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rbbp7 30 |
|
||
MGC76124 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | rbbp7-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rbb4l 30 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Caf1 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | lin-53 31 |
|
ManyToMany | |
rba-1 31 32 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HAT2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716899 | Benign: not provided | 16,869,171(-) | G/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv29438 | CNV | loss | 19812545 |
esv3302821 | CNV | tandem duplication | 20981092 |
nsv1141051 | CNV | deletion | 24896259 |
nsv511654 | CNV | gain | 21212237 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinoblastoma |
|
|
hemophagocytic lymphohistiocytosis, familial, 1 |
|
|