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UniProtKB/Swiss-Prot entry O00512


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name BCL9_HUMAN
Primary accession number O00512
Secondary accession number Q5T489
Integrated into Swiss-Prot on September 19, 2002
Sequence was last modified on September 23, 2008 (Sequence version 4)
Annotations were last modified on    June 16, 2009 (Entry version 78)
Name and origin of the protein
Protein name B-cell CLL/lymphoma 9 protein
Synonyms B-cell lymphoma 9 protein
Bcl-9
Protein legless homolog
Gene name
Name: BCL9
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Fetal brain;
PubMed=9490669 [NCBI, ExPASy, EBI, Israel, Japan]
Willis T.G., Zalcberg I.R., Coignet L.J.A., Wlodarska I., Stul M., Jadayel D.M., Bastard C., Treleaven J.G., Catovsky D., Silva M.L.M., Dyer M.J.S.;
"Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.";
Blood 91:1873-1881(1998).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[4]
FUNCTION.
DOI=10.1016/S0092-8674(02)00679-7; PubMed=11955446 [NCBI, ExPASy, EBI, Israel, Japan]
Kramps T., Peter O., Brunner E., Nellen D., Froesch B., Chatterjee S., Murone M., Zuellig S., Basler K.;
"Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.";
Cell 109:47-60(2002).
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-315 AND SER-687, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
"Large-scale characterization of HeLa cell nuclear phosphoproteins.";
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-318, AND MASS SPECTROMETRY.
DOI=10.1126/science.1140321; PubMed=17525332 [NCBI, ExPASy, EBI, Israel, Japan]
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.";
Science 316:1160-1166(2007).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-155 AND THR-172, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0805139105; PubMed=18669648 [NCBI, ExPASy, EBI, Israel, Japan]
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
Y13620; CAA73942.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL359207; CAI15198.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
CH471223; EAW50932.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00160290; -.
RefSeq NP_004317.2; -.
UniGene Hs.415209
3D structure databases
PDB
2GL7; X-ray; 2.60 A; C/F=347-392.[ExPASy / RCSB / EBI]
2VP7; X-ray; 1.65 A; B=174-205.[ExPASy / RCSB / EBI]
2VPB; X-ray; 1.59 A; B=174-205.[ExPASy / RCSB / EBI]
2VPD; X-ray; 2.77 A; B/D=174-205.[ExPASy / RCSB / EBI]
2VPE; X-ray; 1.70 A; B/D=177-205.[ExPASy / RCSB / EBI]
2VPG; X-ray; 1.60 A; B/D=177-205.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 2GL7; -.
2VP7; -.
2VPB; -.
2VPD; -.
2VPE; -.
2VPG; -.
ModBase O00512.
Protein-protein interaction databases
IntAct O00512; 7.
PTM databases
PhosphoSite O00512; -.
Organism-specific databases
GeneCards GC01P145479; -.
H-InvDB HIX0028826; -.
HGNC HGNC:1008; BCL9.
GenAtlas BCL9.
MIM 602597; gene. [NCBI / EBI]
PharmGKB PA25318; -.
Gene expression databases
ArrayExpress O00512; -.
Bgee O00512; -.
CleanEx HS_BCL9; -.
GermOnline ENSG00000116128; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005515; Molecular function: protein binding (inferred from physical interaction from IntAct).
GO:0016055; Biological process: Wnt receptor signaling pathway (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR015668; Bcl-9.
Graphical view of domain structure.
PANTHER PTHR15185; Bcl-9; 1.
Proteomic databases
PRIDE O00512; -.
Genome annotation databases
Ensembl ENSG00000116128; Homo sapiens. [Contig view]
GeneID 607; -.
KEGG hsa:607; -.
Phylogenomic databases
HOGENOM O00512; -.
HOVERGEN O00512; -.
OMA O00512; VAGSQVH.
Other
NextBio 2469; -.
SOURCE BCL9; Homo sapiens.
ProtoNet O00512.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Chromosomal rearrangement; Nucleus; Phosphoprotein; Polymorphism; Proto-oncogene; Wnt signaling pathway.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   1426  1426     B-cell CLL/lymphoma 9 protein. PRO_0000064885
REGION   347    377  31     CTNNB1-binding. 
COMPBIAS   231   1378  1148     Pro-rich. 
COMPBIAS   331    335  5     Poly-Pro. 
COMPBIAS   514    517  4     Poly-Pro. 
COMPBIAS   900    903  4     Poly-Ala. 
COMPBIAS   970    973  4     Poly-Pro. 
MOD_RES   155    155        Phosphothreonine. 
MOD_RES   172    172        Phosphothreonine. 
MOD_RES   315    315        Phosphothreonine. 
MOD_RES   318    318        Phosphoserine. 
MOD_RES   352    352        Phosphoserine (By similarity). 
MOD_RES   687    687        Phosphoserine. 
VARIANT   671    671  1     P -> S (in dbSNP:rs3820129 [NCBI]). VAR_046545 
VARIANT   782    782  1     R -> K (in dbSNP:rs34002844 [NCBI]). VAR_046546 
CONFLICT   240    240        A -> V (in Ref. 1; CAA73942). 
CONFLICT   487    487        Q -> P (in Ref. 1; CAA73942). 
CONFLICT   609    609        Q -> R (in Ref. 1; CAA73942). 
STRAND   178    180  3      
HELIX   182    193  12      
HELIX   353    373  21      
Sequence information
Length: 1426 AA [This is the length of the unprocessed precursor] Molecular weight: 149290 Da [This is the MW of the unprocessed precursor] CRC64: 51EF3D0DCA2103CB [This is a checksum on the sequence]
        10         20         30         40         50         60 
MHSSNPKVRS SPSGNTQSSP KSKQEVMVRP PTVMSPSGNP QLDSKFSNQG KQGGSASQSQ 

        70         80         90        100        110        120 
PSPCDSKSGG HTPKALPGPG GSMGLKNGAG NGAKGKGKRE RSISADSFDQ RDPGTPNDDS 

       130        140        150        160        170        180 
DIKECNSADH IKSQDSQHTP HSMTPSNATA PRSSTPSHGQ TTATEPTPAQ KTPAKVVYVF 

       190        200        210        220        230        240 
STEMANKAAE AVLKGQVETI VSFHIQNISN NKTERSTAPL NTQISALRND PKPLPQQPPA 

       250        260        270        280        290        300 
PANQDQNSSQ NTRLQPTPPI PAPAPKPAAP PRPLDRESPG VENKLIPSVG SPASSTPLPP 

       310        320        330        340        350        360 
DGTGPNSTPN NRAVTPVSQG SNSSSADPKA PPPPPVSSGE PPTLGENPDG LSQEQLEHRE 

       370        380        390        400        410        420 
RSLQTLRDIQ RMLFPDEKEF TGAQSGGPQQ NPGVLDGPQK KPEGPIQAMM AQSQSLGKGP 

       430        440        450        460        470        480 
GPRTDVGAPF GPQGHRDVPF SPDEMVPPSM NSQSGTIGPD HLDHMTPEQI AWLKLQQEFY 

       490        500        510        520        530        540 
EEKRRKQEQV VVQQCSLQDM MVHQHGPRGV VRGPPPPYQM TPSEGWAPGG TEPFSDGINM 

       550        560        570        580        590        600 
PHSLPPRGMA PHPNMPGSQM RLPGFAGMIN SEMEGPNVPN PASRPGLSGV SWPDDVPKIP 

       610        620        630        640        650        660 
DGRNFPPGQG IFSGPGRGER FPNPQGLSEE MFQQQLAEKQ LGLPPGMAME GIRPSMEMNR 

       670        680        690        700        710        720 
MIPGSQRHME PGNNPIFPRI PVEGPLSPSR GDFPKGIPPQ MGPGRELEFG MVPSGMKGDV 

       730        740        750        760        770        780 
NLNVNMGSNS QMIPQKMREA GAGPEEMLKL RPGGSDMLPA QQKMVPLPFG EHPQQEYGMG 

       790        800        810        820        830        840 
PRPFLPMSQG PGSNSGLRNL REPIGPDQRT NSRLSHMPPL PLNPSSNPTS LNTAPPVQRG 

       850        860        870        880        890        900 
LGRKPLDISV AGSQVHSPGI NPLKSPTMHQ VQSPMLGSPS GNLKSPQTPS QLAGMLAGPA 

       910        920        930        940        950        960 
AAASIKSPPV LGSAAASPVH LKSPSLPAPS PGWTSSPKPP LQSPGIPPNH KAPLTMASPA 

       970        980        990       1000       1010       1020 
MLGNVESGGP PPPTASQPAS VNIPGSLPSS TPYTMPPEPT LSQNPLSIMM SRMSKFAMPS 

      1030       1040       1050       1060       1070       1080 
STPLYHDAIK TVASSDDDSP PARSPNLPSM NNMPGMGINT QNPRISGPNP VVPMPTLSPM 

      1090       1100       1110       1120       1130       1140 
GMTQPLSHSN QMPSPNAVGP NIPPHGVPMG PGLMSHNPIM GHGSQEPPMV PQGRMGFPQG 

      1150       1160       1170       1180       1190       1200 
FPPVQSPPQQ VPFPHNGPSG GQGSFPGGMG FPGEGPLGRP SNLPQSSADA ALCKPGGPGG 

      1210       1220       1230       1240       1250       1260 
PDSFTVLGNS MPSVFTDPDL QEVIRPGATG IPEFDLSRII PSEKPSQTLQ YFPRGEVPGR 

      1270       1280       1290       1300       1310       1320 
KQPQGPGPGF SHMQGMMGEQ APRMGLALPG MGGPGPVGTP DIPLGTAPSM PGHNPMRPPA 

      1330       1340       1350       1360       1370       1380 
FLQQGMMGPH HRMMSPAQST MPGQPTLMSN PAAAVGMIPG KDRGPAGLYT HPGPVGSPGM 

      1390       1400       1410       1420 
MMSMQGMMGP QQNIMIPPQM RPRGMAADVG MGGFSQGPGN PGNMMF 

O00512 in FASTA format

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