Reviewed,
UniProtKB/Swiss-Prot Q6W2J9 (BCOR_HUMAN)
Last modified
June 16, 2009.
Version 58.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: BCL-6 corepressor Short name=BCoR | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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. Ref.1 Ref.2 |
| Subunit structure | Isoform 1 may interact with MLLT3/AF9 By similarity. Interacts with BCL6. Can interact with HDAC1, HDAC3 and HDAC5. Component of repressive BCOR complex containing Polycomb group subcomplex at least composed of RYBP, PCGF1, RING1 and RNF2/RING2. |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed. Ref.1 |
| Involvement in disease | Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]. Microphthalmia is a clinically heterogeneous 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. MCOPS2 is 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). Ref.2 |
| Sequence similarities | Belongs to the BCOR family. Contains 3 ANK repeats. |
| Sequence caution | The sequence AAH63536.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Presence of complementary strand sequence in the clone. The sequence BAA91061.1 differs from that shown. Reason: Miscellaneous discrepancy. Intron retention. The sequence BAB85037.1 differs from that shown. Reason: Frameshift at position 1353. |
Ontologies
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 | ||||||
| Compositional bias | 634 – 711 | 78 | Pro-rich | ||||||
| Compositional bias | 1625 – 1631 | 7 | Poly-Asp | ||||||
Amino acid modifications | |||||||||
| Modified residue | 423 | 1 | Phosphoserine Ref.6 Ref.9 | ||||||
| Modified residue | 469 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 473 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 480 | 1 | Phosphoserine Ref.8 | ||||||
| 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 | VAR_020921 | |||||
Experimental info | |||||||||
| Sequence conflict | 406 | 1 | V → A in BAB85037. Ref.5 | ||||||
| Sequence conflict | 596 | 1 | Q → L in BAB85037. Ref.5 | ||||||
| Sequence conflict | 1459 | 1 | N → S in BAA91061. Ref.5 | ||||||
| Sequence conflict | 1577 | 1 | K → R in BAA91061. Ref.5 | ||||||
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: 10898795] [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: 15004558] [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: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [4] | "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: 15489334] [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. |
| [5] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 217-1755 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 1328-1755. |
| [6] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-423, MASS SPECTROMETRY. Tissue: Epithelium. |
| [7] | "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: 16943429] [Abstract] Cited for: INTERACTION WITH RYBP, PCGF1, RING1, RNF2. |
| [8] | "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-469; SER-473 AND SER-480, MASS SPECTROMETRY. |
| [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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-423 AND SER-1410, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF317391 mRNA. Translation: AAG41429.1. AF317392 mRNA. Translation: AAG41430.1. AY316592 mRNA. Translation: AAR08265.1. AB046795 mRNA. Translation: BAB13401.2. Different initiation. 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. NP_001116856.1. NP_001116857.1. NP_060215.4. | ||||||||||||
| UniGene | Hs.659681 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q6W2J9. 1 interaction. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q6W2J9. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q6W2J9. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000183337. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 54880. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC0XM039794. | ||||||||||||
| H-InvDB | HIX0016732. | ||||||||||||
| HGNC | HGNC:20893. BCOR. | ||||||||||||
| MIM | 300166. phenotype. 300485. gene. | ||||||||||||
| Orphanet | 1379. Cataract - microphthalmia - septal defect. 2712. Oculofaciocardiodental syndrome. | ||||||||||||
| PharmGKB | PA134921737. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | Q6W2J9. | ||||||||||||
| OMA | Q6W2J9. SSSCPRM. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | hdac_classii_pathway. Signaling events mediated by HDAC Class II. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q6W2J9. | ||||||||||||
| Bgee | Q6W2J9. | ||||||||||||
| GermOnline | ENSG00000183337. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR002110. ANK. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. | ||||||||||||
| Pfam | PF00023. Ank. 3 hits. [Graphical view] | ||||||||||||
| SMART | SM00248. ANK. 3 hits. [Graphical view] | ||||||||||||
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 57837. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | BCOR_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6W2J9 Secondary accession number(s): Q29RF6 Q9NXF2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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


