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This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
ITGB3BP (Integrin Subunit Beta 3 Binding Protein) is a Protein Coding gene. Diseases associated with ITGB3BP include Microcephaly 16, Primary, Autosomal Recessive and Microcephaly 15, Primary, Autosomal Recessive. Among its related pathways are Signaling by GPCR and AKT Siganaling Pathway. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and protein C-terminus binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008022 | protein C-terminus binding | TAS | 10490654 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IEA | -- |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0005634 | nucleus | TAS | 10490654 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell Cycle, Mitotic |
.83
|
.60
|
2 | p75 NTR receptor-mediated signalling | ||
3 | Chromosome Maintenance | ||
4 | Mitotic Metaphase and Anaphase |
.94
|
|
5 | Mitotic Prometaphase |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007155 | cell adhesion | TAS | 7593198 |
GO:0007165 | signal transduction | TAS | 7593198 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Progesterone | Approved, Vet_approved | Pharma | Activator, Full agonist, Agonist, Pore Blocker, Inhibition | Endogenous progesterone receptor agonist | 755 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ITGB3BP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ITGB3BP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ITGB3BP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Itgb3bp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Itgb3bp 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ITGB3BP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ITGB3BP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ITGB3BP 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1058057 | - | p.Ile30Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2749041 | CNV | deletion | 23290073 |
esv2749052 | CNV | deletion | 23290073 |
nsv1002554 | CNV | gain | 25217958 |
nsv1113128 | CNV | deletion | 24896259 |
nsv1119692 | CNV | deletion | 24896259 |
nsv461672 | CNV | gain | 19166990 |
nsv470714 | CNV | gain | 18288195 |
nsv477252 | CNV | novel sequence insertion | 20440878 |
nsv510935 | OTHER | complex | 20534489 |
nsv546433 | CNV | gain | 21841781 |
nsv546434 | CNV | loss | 21841781 |
nsv830026 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 16, primary, autosomal recessive |
|
|
microcephaly 15, primary, autosomal recessive |
|
|
microcephaly 14, primary, autosomal recessive |
|
|
intermittent explosive disorder |
|
|
breast cancer |
|