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Reviewed, UniProtKB/Swiss-Prot Q6W2J9 (BCOR_HUMAN)

Last modified June 16, 2009. Version 58. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    BCL-6 corepressor
      Short name=BCoR
Gene names
Name: BCOR
Synonyms: KIAA1575
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1755 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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

Nucleus. Ref.1

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17551755BCL-6 corepressor
PRO_0000066978

Regions

Repeat1462 – 149534ANK 1
Repeat1496 – 152530ANK 2
Repeat1529 – 155830ANK 3
Compositional bias634 – 71178Pro-rich
Compositional bias1625 – 16317Poly-Asp

Amino acid modifications

Modified residue4231Phosphoserine Ref.6 Ref.9
Modified residue4691Phosphoserine Ref.8
Modified residue4731Phosphoserine Ref.8
Modified residue4801Phosphoserine Ref.8
Modified residue11421Phosphoserine By similarity
Modified residue14101Phosphoserine Ref.9

Natural variations

Alternative sequence1000 – 101718Missing in isoform 4.
VSP_012555
Alternative sequence1000 – 10045MEGLQ → VSPPT in isoform 3.
VSP_012554
Alternative sequence1005 – 1755751Missing in isoform 3.
VSP_012556
Alternative sequence1168 – 120134Missing in isoform 2 and isoform 4.
VSP_012557
Natural variant851P → L in MCOPS2. Ref.2
VAR_020921

Experimental info

Sequence conflict4061V → A in BAB85037. Ref.5
Sequence conflict5961Q → L in BAB85037. Ref.5
Sequence conflict14591N → S in BAA91061. Ref.5
Sequence conflict15771K → R in BAA91061. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: A80CFCD5618EE717

FASTA1,755192,189
        10         20         30         40         50         60 
MLSATPLYGN VHSWMNSERV RMCGASEDRK ILVNDGDASK ARLELREENP LNHNVVDAST 

        70         80         90        100        110        120 
AHRIDGLAAL SMDRTGLIRE GLRVPGNIVY SSLCGLGSEK GREAATSTLG GLGFSSERNP 

       130        140        150        160        170        180 
EMQFKPNTPE TVEASAVSGK PPNGFSAIYK TPPGIQKSAV ATAEALGLDR PASDKQSPLN 

       190        200        210        220        230        240 
INGASYLRLP WVNPYMEGAT PAIYPFLDSP NKYSLNMYKA LLPQQSYSLA QPLYSPVCTN 

       250        260        270        280        290        300 
GERFLYLPPP HYVGPHIPSS LASPMRLSTP SASPAIPPLV HCADKSLPWK MGVSPGNPVD 

       310        320        330        340        350        360 
SHAYPHIQNS KQPRVPSAKA VTSGLPGDTA LLLPPSPRPS PRVHLPTQPA ADTYSEFHKH 

       370        380        390        400        410        420 
YARISTSPSV ALSKPYMTVS SEFPAARLSN GKYPKAPEGG EGAQPVPGHA RKTAVQDRKD 

       430        440        450        460        470        480 
GSSPPLLEKQ TVTKDVTDKP LDLSSKVVDV DASKADHMKK MAPTVLVHSR AGSGLVLSGS 

       490        500        510        520        530        540 
EIPKETLSPP GNGCAIYRSE IISTAPSSWV VPGPSPNEEN NGKSMSLKNK ALDWAIPQQR 

       550        560        570        580        590        600 
SSSCPRMGGT DAVITNVSGS VSSAGRPASA SPAPNANADG TKTSRSSVET TPSVIQHVGQ 

       610        620        630        640        650        660 
PPATPAKHSS STSSKGAKAS NPEPSFKANE NGLPPSSIFL SPNEAFRSPP IPYPRSYLPY 

       670        680        690        700        710        720 
PAPEGIAVSP LSLHGKGPVY PHPVLLPNGS LFPGHLAPKP GLPYGLPTGR PEFVTYQDAL 

       730        740        750        760        770        780 
GLGMVHPMLI PHTPIEITKE EKPERRSRSH ERARYEDPTL RNRFSEILET SSTKLHPDVP 

       790        800        810        820        830        840 
TDKNLKPNPN WNQGKTVVKS DKLVYVDLLR EEPDAKTDTN VSKPSFAAES VGQSAEPPKP 

       850        860        870        880        890        900 
SVEPALQQHR DFIALREELG RISDFHETYT FKQPVFTVSK DSVLAGTNKE NLGLPVSTPF 

       910        920        930        940        950        960 
LEPPLGSDGP AVTFGKTQED PKPFCVGSAP PSVDVTPTYT KDGADEAESN DGKVLKPKPS 

       970        980        990       1000       1010       1020 
KLAKRIANSA GYVGDRFKCV TTELYADSSQ LSREQRALQM EGLQEDSILC LPAAYCERAM 

      1030       1040       1050       1060       1070       1080 
MRFSELEMKE REGGHPATKD SEMCKFSPAD WERLKGNQDK KPKSVTLEEA IAEQNESERC 

      1090       1100       1110       1120       1130       1140 
EYSVGNKHRD PFEAPEDKDL PVEKYFVERQ PVSEPPADQV ASDMPHSPTL RVDRKRKVSG 

      1150       1160       1170       1180       1190       1200 
DSSHTETTAE EVPEDPLLKA KRRRVSKDDW PEREMTNSSS NHLEDPHYSE LTNLKVCIEL 

      1210       1220       1230       1240       1250       1260 
TGLHPKKQRH LLHLRERWEQ QVSAADGKPG RQSRKEVTQA TQPEAIPQGT NITEEKPGRK 

      1270       1280       1290       1300       1310       1320 
RAEAKGNRSW SEESLKPSDN EQGLPVFSGS PPMKSLSSTS AGGKKQAQPS CAPASRPPAK 

      1330       1340       1350       1360       1370       1380 
QQKIKENQKT DVLCADEEED CQAASLLQKY TDNSEKPSGK RLCKTKHLIP QESRRGLPLT 

      1390       1400       1410       1420       1430       1440 
GEYYVENADG KVTVRRFRKR PEPSSDYDLS PAKQEPKPFD RLQQLLPASQ STQLPCSSSP 

      1450       1460       1470       1480       1490       1500 
QETTQSRPMP PEARRLIVNK NAGETLLQRA ARLGYEEVVL YCLENKICDV NHRDNAGYCA 

      1510       1520       1530       1540       1550       1560 
LHEACARGWL NIVRHLLEYG ADVNCSAQDG TRPLHDAVEN DHLEIVRLLL SYGADPTLAT 

      1570       1580       1590       1600       1610       1620 
YSGRTIMKMT HSELMEKFLT DYLNDLQGRN DDDASGTWDF YGSSVCEPDD ESGYDVLANP 

      1630       1640       1650       1660       1670       1680 
PGPEDQDDDD DAYSDVFEFE FSETPLLPCY NIQVSVAQGP RNWLLLSDVL KKLKMSSRIF 

      1690       1700       1710       1720       1730       1740 
RCNFPNVEIV TIAEAEFYRQ VSASLLFSCS KDLEAFNPES KELLDLVEFT NEIQTLLGSS 

      1750 
VEWLHPSDLA SDNYW 

« Hide

Isoform 2.

Checksum: F22343D545DB67AB
Show »

FASTA1,721188,202
Isoform 3 (Short).

Checksum: 126BD762958CB9F4
Show »

FASTA1,004107,404
Isoform 4.

Checksum: 7433FBCE7238261F
Show »

FASTA1,703186,235

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.

Web resources

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.
IPIIPI00100291.
IPI00143877.
IPI00439548.
IPI00514505.
RefSeqNP_001116855.1.
NP_001116856.1.
NP_001116857.1.
NP_060215.4.
UniGeneHs.659681

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
3BIMX-ray2.60I/J/K/L/M/N/O/P498-514[»]
ModBaseSearch...

Protein-protein interaction databases

IntActQ6W2J9. 1 interaction.

PTM databases

PhosphoSiteQ6W2J9.

Proteomic databases

PRIDEQ6W2J9.

Genome annotation databases

EnsemblENSG00000183337. Homo sapiens. [Contig view]
GeneID54880.

Organism-specific databases

GeneCardsGC0XM039794.
H-InvDBHIX0016732.
HGNCHGNC:20893. BCOR.
MIM300166. phenotype.
300485. gene.
Orphanet1379. Cataract - microphthalmia - septal defect.
2712. Oculofaciocardiodental syndrome.
PharmGKBPA134921737.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ6W2J9.
OMAQ6W2J9. SSSCPRM.

Enzyme and pathway databases

Pathway_Interaction_DBhdac_classii_pathway. Signaling events mediated by HDAC Class II.

Gene expression databases

ArrayExpressQ6W2J9.
BgeeQ6W2J9.
GermOnlineENSG00000183337. Homo sapiens.

Family and domain databases

InterProIPR002110. ANK.
[Graphical view]
Gene3DG3DSA:1.25.40.20. ANK. 1 hit.
PfamPF00023. Ank. 3 hits.
[Graphical view]
SMARTSM00248. ANK. 3 hits.
[Graphical view]
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio57837.
SOURCESearch...

Entry information

Entry nameBCOR_HUMAN
AccessionPrimary (citable) accession number: Q6W2J9
Secondary accession number(s): Q29RF6 expand/collapse secondary AC list , Q6P4B6, Q7Z2K7, Q8TEB4, Q96DB3, Q9H232, Q9H233, Q9HCJ7, Q9NXF2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: July 5, 2004
Last modified: June 16, 2009
This is version 58 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents