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The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
RBBP8 (RB Binding Protein 8, Endonuclease) is a Protein Coding gene. Diseases associated with RBBP8 include Jawad Syndrome and Seckel Syndrome 2. Among its related pathways are Homologous DNA Pairing and Strand Exchange and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include damaged DNA binding. An important paralog of this gene is RBBP8NL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000014 | single-stranded DNA endodeoxyribonuclease activity | IBA,IMP | 18716619 |
GO:0000403 | Y-form DNA binding | IBA | 21873635 |
GO:0000406 | double-strand/single-strand DNA junction binding | IBA | 21873635 |
GO:0001103 | RNA polymerase II repressing transcription factor binding | IPI | 16287852 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,TAS | 10764811 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0017053 | transcriptional repressor complex | IDA | 16287852 |
GO:0035861 | site of double-strand break | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
|
|
2 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
3 | Homologous DNA Pairing and Strand Exchange | ||
4 | Regulation of TP53 Activity | ||
5 | Cell Cycle Checkpoints |
.84
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000082 | G1/S transition of mitotic cell cycle | IEA | -- |
GO:0000724 | double-strand break repair via homologous recombination | IEA,TAS | -- |
GO:0000729 | DNA double-strand break processing | TAS | -- |
GO:0001835 | blastocyst hatching | IEA | -- |
GO:0006260 | DNA replication | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 20 | ^ | 21a | · | 21b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RBBP8 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | RBBP8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RBBP8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rbbp8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rbbp8 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RBBP8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RBBP8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RBBP8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rbbp8 30 |
|
||
Str.7440 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | rbbp8 31 |
|
OneToOne | |
Dr.21899 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
669107 | Benign: not provided | 22,982,555(+) | G/A | INTRON_VARIANT | |
670487 | Benign: not provided | 22,988,974(+) | G/A | INTRON_VARIANT | |
673333 | Benign: not provided | 22,997,493(+) | T/A | INTRON_VARIANT | |
673936 | Benign: not provided | 22,975,256(+) | T/C | INTRON_VARIANT | |
673956 | Benign: not provided | 22,996,218(+) | G/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1868e59 | CNV | tandem duplication | 20981092 |
esv1450571 | CNV | insertion | 17803354 |
esv2659320 | CNV | deletion | 23128226 |
esv3443453 | CNV | duplication | 20981092 |
esv3641965 | CNV | loss | 21293372 |
nsv1056849 | CNV | gain | 25217958 |
nsv1067209 | CNV | loss | 25217958 |
nsv1117194 | CNV | tandem duplication | 24896259 |
nsv131399 | CNV | insertion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
jawad syndrome |
|
|
seckel syndrome 2 |
|
|
seckel syndrome |
|
|
retinoblastoma |
|
|
microcephaly |
|
|