Homo sapiens Protein: BCOR | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-56671.7 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | BCOR | ||||||||||||||||||||||||
Protein Name | BCL6 corepressor | ||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000345923 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-56665 (BCOR) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence- specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). {ECO:0000269PubMed:10898795, ECO:0000269PubMed:15004558, ECO:0000269PubMed:18280243, ECO:0000269PubMed:19578371, ECO:0000269PubMed:23911289}. | ||||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:10898795}. | ||||||||||||||||||||||||
Disease Associations | Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166]: A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:15004558}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||
Tissue Specificity | Ubiquitously expressed. {ECO:0000269PubMed:10898795}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
||||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR002110
Ankyrin repeat IPR020683 Ankyrin repeat-containing domain |
||||||||||||||||||||||||
PFAM |
PF00023
PF13606 PF11929 PF12796 |
||||||||||||||||||||||||
PRINTS |
PR01415
|
||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||
SMART |
SM00248
|
||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | Q6W2J9 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q6W2J9 | ||||||||||||||||||||||||
TrEMBL | H7BZ37 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 54880 | ||||||||||||||||||||||||
UniGene | Hs.618974 | ||||||||||||||||||||||||
RefSeq | NP_001116855 | ||||||||||||||||||||||||
HUGO | HGNC:20893 | ||||||||||||||||||||||||
OMIM | 300485 | ||||||||||||||||||||||||
CCDS | CCDS14250 | ||||||||||||||||||||||||
HPRD | 06458 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AB046795 AC091806 AC092198 AF317391 AF317392 AK000292 AK074286 AL591802 AY316592 BC009675 BC063536 BC114220 CH471141 | ||||||||||||||||||||||||
GenPept | AAG41429 AAG41430 AAH09675 AAH63536 AAI14221 AAR08265 BAA91061 BAB13401 BAB85037 EAW59425 EAW59427 EAW59428 EAW59430 | ||||||||||||||||||||||||