Description: Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. RefSeq Summary (NM_004326): BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr1:147,013,182-147,098,015 Size: 84,834 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr1:147,083,636-147,096,760 Size: 13,125 Coding Exon Count: 7
ID:BCL9_HUMAN DESCRIPTION: RecName: Full=B-cell CLL/lymphoma 9 protein; Short=B-cell lymphoma 9 protein; Short=Bcl-9; AltName: Full=Protein legless homolog; FUNCTION: Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). SUBUNIT: Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2. INTERACTION: P18824:arm (xeno); NbExp=3; IntAct=EBI-533127, EBI-216128; Q6P1J9:CDC73; NbExp=2; IntAct=EBI-533127, EBI-930143; P35222:CTNNB1; NbExp=2; IntAct=EBI-533127, EBI-491549; Q9V9W8:pygo (xeno); NbExp=3; IntAct=EBI-533127, EBI-152653; Q9Y3Y4:PYGO1; NbExp=7; IntAct=EBI-533127, EBI-3397474; SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies. SIMILARITY: Belongs to the BCL9 family. CAUTION: It is uncertain whether Met-1 or Met-27 is the initiator. SEQUENCE CAUTION: Sequence=CAA73942.1; Type=Frameshift; Positions=1391; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL9ID466.html";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): BCL9 CDC HuGE Published Literature: BCL9 Positive Disease Associations: Blood Flow Velocity
, Hip Related Studies:
Blood Flow Velocity Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
Blood Flow Velocity Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00512
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Y13620 - Homo sapiens mRNA for B-cell CLL/lymphoma 9 (BCL9 gene). AK298105 - Homo sapiens cDNA FLJ60744 complete cds, moderately similar to B-cell lymphoma 9 protein. JD163444 - Sequence 144468 from Patent EP1572962. JD459215 - Sequence 440239 from Patent EP1572962. JD396389 - Sequence 377413 from Patent EP1572962. JD369836 - Sequence 350860 from Patent EP1572962. JD135545 - Sequence 116569 from Patent EP1572962. JD555834 - Sequence 536858 from Patent EP1572962. JD321807 - Sequence 302831 from Patent EP1572962. JD373502 - Sequence 354526 from Patent EP1572962. JD275089 - Sequence 256113 from Patent EP1572962. JD186876 - Sequence 167900 from Patent EP1572962. JD373239 - Sequence 354263 from Patent EP1572962. JD470959 - Sequence 451983 from Patent EP1572962. JD036642 - Sequence 17666 from Patent EP1572962. JD475490 - Sequence 456514 from Patent EP1572962. BC116451 - Homo sapiens B-cell CLL/lymphoma 9, mRNA (cDNA clone MGC:131591 IMAGE:7961941), complete cds. AB385170 - Synthetic construct DNA, clone: pF1KB7004, Homo sapiens BCL9 gene for B-cell lymphoma 9 protein, complete cds, without stop codon, in Flexi system. JD111814 - Sequence 92838 from Patent EP1572962. JD111815 - Sequence 92839 from Patent EP1572962. JD483575 - Sequence 464599 from Patent EP1572962. JD274365 - Sequence 255389 from Patent EP1572962. JD372384 - Sequence 353408 from Patent EP1572962. JD088150 - Sequence 69174 from Patent EP1572962. JD147329 - Sequence 128353 from Patent EP1572962. JD301482 - Sequence 282506 from Patent EP1572962. JD145470 - Sequence 126494 from Patent EP1572962. JD469508 - Sequence 450532 from Patent EP1572962. JD171728 - Sequence 152752 from Patent EP1572962. JD286051 - Sequence 267075 from Patent EP1572962. JD128311 - Sequence 109335 from Patent EP1572962. JD147916 - Sequence 128940 from Patent EP1572962. JD230394 - Sequence 211418 from Patent EP1572962. JD125103 - Sequence 106127 from Patent EP1572962. JD520147 - Sequence 501171 from Patent EP1572962. JD232035 - Sequence 213059 from Patent EP1572962. JD301729 - Sequence 282753 from Patent EP1572962. JD151767 - Sequence 132791 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O00512 (Reactome details) participates in the following event(s):
R-HSA-201712 Beta-catenin:TCF associates with BCL9 and PYGO R-HSA-3364014 Recruitment of SET1 methyltransferase complex R-HSA-3364026 SET1 complex trimethylates H3K4 at the MYC gene R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex R-HSA-3769402 Deactivation of the beta-catenin transactivating complex R-HSA-201681 TCF dependent signaling in response to WNT R-HSA-195721 Signaling by WNT R-HSA-162582 Signal Transduction