Q6W2J9 (BCOR_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: BCL-6 corepressor Short name=BCoR | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1755 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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). Ref.1 Ref.2 Ref.10 Ref.16 |
| Subunit structure | Isoform 1 may interact with MLLT3/AF9 By similarity. Interacts with BCL6; the interaction is direct. Can interact with HDAC1, HDAC3 and HDAC5. Interacts with PCGF1; the interaction is direct. Interacts with KDM2B. Component of an approximative 800 kDa repressive BCOR complex at least composed of BCOR, RYBP, PCGF1, RING1, RNF2/RING2, KDM2B and SKP1. Ref.1 Ref.8 |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed. Ref.1 |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the BCOR family. Contains 3 ANK repeats. |
| Sequence caution | The sequence AAH63536.1 differs from that shown. Reason: Contaminating sequence. Presence of complementary strand sequence in the clone. The sequence BAA91061.1 differs from that shown. Reason: Intron retention. The sequence BAB13401.2 differs from that shown. Reason: Erroneous initiation. The sequence BAB85037.1 differs from that shown. Reason: Frameshift at position 1353. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| KDM2B | Q8NHM5 | 2 | EBI-950027,EBI-3955564 | |
| PCGF1 | Q9BSM1 | 6 | EBI-950027,EBI-749901 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6W2J9-1) Also known as: Long; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q6W2J9-2) The sequence of this isoform differs from the canonical sequence as follows: 1168-1201: Missing. | ||||||
| Isoform 3 (identifier: Q6W2J9-3) Also known as: Short; The sequence of this isoform differs from the canonical sequence as follows: 1000-1004: MEGLQ → VSPPT 1005-1755: Missing. | ||||||
| Isoform 4 (identifier: Q6W2J9-4) The sequence of this isoform differs from the canonical sequence as follows: 1000-1017: Missing. 1168-1201: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1755 | 1755 | BCL-6 corepressor | PRO_0000066978 | |||||||
Regions | |||||||||||
| Repeat | 1462 – 1495 | 34 | ANK 1 | ||||||||
| Repeat | 1496 – 1525 | 30 | ANK 2 | ||||||||
| Repeat | 1529 – 1558 | 30 | ANK 3 | ||||||||
| Region | 498 – 514 | 17 | Interaction with BCL6 | ||||||||
| Compositional bias | 634 – 711 | 78 | Pro-rich | ||||||||
| Compositional bias | 1625 – 1631 | 7 | Poly-Asp | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 336 | 1 | Phosphoserine Ref.13 | ||||||||
| Modified residue | 340 | 1 | Phosphoserine Ref.13 | ||||||||
| Modified residue | 365 | 1 | Phosphoserine Ref.13 | ||||||||
| Modified residue | 367 | 1 | Phosphoserine Ref.13 | ||||||||
| Modified residue | 392 | 1 | N6-acetyllysine Ref.12 | ||||||||
| Modified residue | 423 | 1 | Phosphoserine Ref.9 Ref.13 Ref.15 | ||||||||
| Modified residue | 1139 | 1 | Phosphoserine Ref.11 | ||||||||
| Modified residue | 1142 | 1 | Phosphoserine By similarity | ||||||||
| Modified residue | 1410 | 1 | Phosphoserine Ref.9 | ||||||||
Natural variations | |||||||||||
| Alternative sequence | 1000 – 1017 | 18 | Missing in isoform 4. | VSP_012555 | |||||||
| Alternative sequence | 1000 – 1004 | 5 | MEGLQ → VSPPT in isoform 3. | VSP_012554 | |||||||
| Alternative sequence | 1005 – 1755 | 751 | Missing in isoform 3. | VSP_012556 | |||||||
| Alternative sequence | 1168 – 1201 | 34 | Missing in isoform 2 and isoform 4. | VSP_012557 | |||||||
| Natural variant | 85 | 1 | P → L in MCOPS2. Ref.2 Corresponds to variant rs28935183 [ dbSNP | Ensembl ]. | VAR_020921 | |||||||
Experimental info | |||||||||||
| Mutagenesis | 507 | 1 | S → A: Abolishes interaction with BCL6 and inhibits BCL6 corepression activity; when associated with A-509 and A-511. Ref.16 | ||||||||
| Mutagenesis | 508 | 1 | S → A: Diminishes interaction with BCL6. Ref.16 | ||||||||
| Mutagenesis | 509 | 1 | W → A: Abolishes interaction with BCL6 and inhibits BCL6 corepression activity; when associated with A-507 and A-511. Ref.16 | ||||||||
| Mutagenesis | 511 | 1 | V → A: Abolishes interaction with BCL6 and inhibits BCL6 corepression activity; when associated with A-507 and A-509. Ref.16 | ||||||||
| Sequence conflict | 406 | 1 | V → A in BAB85037. Ref.6 | ||||||||
| Sequence conflict | 596 | 1 | Q → L in BAB85037. Ref.6 | ||||||||
| Sequence conflict | 1459 | 1 | N → S in BAA91061. Ref.6 | ||||||||
| Sequence conflict | 1577 | 1 | K → R in BAA91061. Ref.6 | ||||||||
Secondary structure | |||||||||||
Helix Strand Turn | |||||||||||
| Beta strand | 500 – 503 | 4 | |||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "BCoR, a novel corepressor involved in BCL-6 repression." Huynh K.D., Fischle W., Verdin E., Bardwell V.J. Genes Dev. 14:1810-1823(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), FUNCTION, INTERACTION WITH BCL6; HDAC1; HDAC3 AND HDAC5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Frontal cortex. |
| [2] | "Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR." Ng D., Thakker N., Corcoran C.M., Donnai D., Perveen R., Schneider A., Hadley D.W., Tifft C., Zhang L., Wilkie A.O., van der Smagt J.J., Gorlin R.J., Burgess S.M., Bardwell V.J., Black G.C.M., Biesecker L.G. Nat. Genet. 36:411-416(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT MCOPS2 LEU-85. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1395-1755 (ISOFORM 1). Tissue: Liver, Lymph and Uterus. |
| [6] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 217-1755 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 1328-1755. |
| [7] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [8] | "Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets." Gearhart M.D., Corcoran C.M., Wamstad J.A., Bardwell V.J. Mol. Cell. Biol. 26:6880-6889(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PCGF1 AND KDM2B, IDENTIFICATION IN A COMPLEX WITH RYBP; PCGF1; RING1; RNF2; KDM2B AND SKP1. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-423 AND SER-1410, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "BCOR regulates mesenchymal stem cell function by epigenetic mechanisms." Fan Z., Yamaza T., Lee J.S., Yu J., Wang S., Fan G., Shi S., Wang C.-Y. Nat. Cell Biol. 11:1002-1009(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [11] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1139, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [12] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-392, MASS SPECTROMETRY. |
| [13] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-336; SER-340; SER-365; SER-367 AND SER-423, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [14] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [15] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-423, MASS SPECTROMETRY. |
| [16] | "Structure of a BCOR corepressor peptide in complex with the BCL6 BTB domain dimer." Ghetu A.F., Corcoran C.M., Cerchietti L., Bardwell V.J., Melnick A., Prive G.G. Mol. Cell 29:384-391(2008) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 498-514 IN COMPLEX WITH BCL6, FUNCTION, MUTAGENESIS OF SER-507; SER-508; TRP-509 AND VAL-511. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF317391 mRNA. Translation: AAG41429.1. AF317392 mRNA. Translation: AAG41430.1. AY316592 mRNA. Translation: AAR08265.1. AB046795 mRNA. Translation: BAB13401.2. Different initiation. CH471141 Genomic DNA. Translation: EAW59425.1. CH471141 Genomic DNA. Translation: EAW59427.1. CH471141 Genomic DNA. Translation: EAW59428.1. CH471141 Genomic DNA. Translation: EAW59430.1. BC009675 mRNA. Translation: AAH09675.2. BC063536 mRNA. Translation: AAH63536.1. Sequence problems. BC114220 mRNA. Translation: AAI14221.1. AK000292 mRNA. Translation: BAA91061.1. Sequence problems. AK074286 mRNA. Translation: BAB85037.1. Frameshift. | ||||||||||||
| IPI | IPI00100291. IPI00143877. IPI00439548. IPI00514505. | ||||||||||||
| RefSeq | NP_001116855.1. NM_001123383.1. NP_001116856.1. NM_001123384.1. NP_001116857.1. NM_001123385.1. NP_060215.4. NM_017745.5. | ||||||||||||
| UniGene | Hs.659681. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | Q6W2J9. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q6W2J9. 8 interactions. | ||||||||||||
| MINT | MINT-2817388. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q6W2J9. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 57012588. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q6W2J9. | ||||||||||||
| PRIDE | Q6W2J9. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 54880. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000342274; ENSP00000345923; ENSG00000183337. ENST00000378444; ENSP00000367705; ENSG00000183337. ENST00000378455; ENSP00000367716; ENSG00000183337. ENST00000397354; ENSP00000380512; ENSG00000183337. | ||||||||||||
| GeneID | 54880. | ||||||||||||
| KEGG | hsa:54880. | ||||||||||||
| UCSC | uc004dem.4. human. uc004den.4. human. uc004deo.4. human. uc004deq.4. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 54880. | ||||||||||||
| GeneCards | GC0XM039909. | ||||||||||||
| HGNC | HGNC:20893. BCOR. | ||||||||||||
| MIM | 300166. phenotype. 300485. gene. | ||||||||||||
| neXtProt | NX_Q6W2J9. | ||||||||||||
| Orphanet | 568. Microphthalmia, Lenz type. 2712. Oculofaciocardiodental syndrome. | ||||||||||||
| PharmGKB | PA134921737. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG0666. | ||||||||||||
| HOVERGEN | HBG050682. | ||||||||||||
| InParanoid | Q6W2J9. | ||||||||||||
| OMA | SSCPRMG. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | hdac_classii_pathway. Signaling events mediated by HDAC Class II. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q6W2J9. | ||||||||||||
| Bgee | Q6W2J9. | ||||||||||||
| Genevestigator | Q6W2J9. | ||||||||||||
| GermOnline | ENSG00000183337. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.25.40.20. 1 hit. | ||||||||||||
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view] | ||||||||||||
| Pfam | PF12796. Ank_2. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00248. ANK. 3 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF48403. ANK. 1 hit. | ||||||||||||
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | BCOR. human. | ||||||||||||
| EvolutionaryTrace | Q6W2J9. | ||||||||||||
| GenomeRNAi | 54880. | ||||||||||||
| NextBio | 57837. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | BCOR_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6W2J9 Secondary accession number(s): D3DWB3 Q9NXF2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
