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This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
CBX5 (Chromobox 5) is a Protein Coding gene. Diseases associated with CBX5 include Reynolds Syndrome and Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and histone deacetylase binding. An important paralog of this gene is CBX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 8663349 |
GO:0030674 | protein binding, bridging | ISS | -- |
GO:0035064 | methylated histone binding | IDA | 19783980 |
GO:0042802 | identical protein binding | IPI | 18716626 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000118 | histone deacetylase complex | ISS | -- |
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IEA | -- |
GO:0000781 | chromosome, telomeric region | HDA | 19135898 |
GO:0000792 | heterochromatin | TAS | 8663349 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin Regulation / Acetylation | ||
2 | Factors involved in megakaryocyte development and platelet production | ||
3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
4 | E2F mediated regulation of DNA replication |
Cell cycle Start of DNA replication in early S phase
.53
|
|
5 | Aurora B signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 19617346 |
GO:0006974 | cellular response to DNA damage stimulus | IMP | 27248496 |
GO:0007596 | blood coagulation | TAS | -- |
GO:0016032 | viral process | IEA | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IMP | 9636146 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 271 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CBX5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CBX5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CBX5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cbx5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cbx5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | CBX5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cbx5 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | cbx5-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cbx5 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Su(var)205 31 |
|
ManyToMany | |
HP6 31 |
|
ManyToMany | |||
HP1b 31 32 |
|
ManyToMany | |||
HP1e 31 |
|
ManyToMany | |||
HP1c 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | hpl-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3133 31 |
|
OneToMany |
Disorder | Aliases | PubMed IDs |
---|---|---|
reynolds syndrome |
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome |
|
|
hyperoxaluria, primary, type i |
|
|
carbohydrate metabolic disorder |
|
|
primary hyperoxaluria |
|
|