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    BCL9 B cell CLL/lymphoma 9 [ Homo sapiens (human) ]

    Gene ID: 607, updated on 8-Jul-2018
    Official Symbol
    BCL9provided by HGNC
    Official Full Name
    B cell CLL/lymphoma 9provided by HGNC
    Primary source
    HGNC:HGNC:1008
    See related
    Ensembl:ENSG00000116128 MIM:602597; Vega:OTTHUMG00000014031
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGS
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 9.5), ovary (RPKM 8.1) and 25 other tissues See more
    Orthologs
    See BCL9 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (147541501..147626219)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147013222..147098022)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 624 Neighboring gene olfactory receptor family 13 subfamily Z member 2 pseudogene Neighboring gene olfactory receptor family 13 subfamily Z member 3 pseudogene Neighboring gene acid phosphatase 6, lysophosphatidic Neighboring gene uncharacterized LOC102723321 Neighboring gene uncharacterized LOC105371230 Neighboring gene RNA, 7SL, cytoplasmic 261, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    NHGRI GWA Catalog
    BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of B-cell CLL/lymphoma 9 (BCL9) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC131591

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    myotube differentiation involved in skeletal muscle regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    NOT regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    beta-catenin-TCF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-catenin-TCF complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    B-cell CLL/lymphoma 9 protein
    Names
    B-cell lymphoma 9 protein
    bcl-9
    protein legless homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004326.3NP_004317.2  B-cell CLL/lymphoma 9 protein

      See identical proteins and their annotated locations for NP_004317.2

      Status: REVIEWED

      Source sequence(s)
      AC242628, AW104430, BC116451, CN281037, CN281038, DA593760
      Consensus CDS
      CCDS30833.1
      UniProtKB/Swiss-Prot
      O00512
      UniProtKB/TrEMBL
      A0A024QYY4, Q1JQ81
      Related
      ENSP00000234739.3, OTTHUMP00000015909, ENST00000234739.7, OTTHUMT00000039468
      Conserved Domains (1) summary
      pfam11502
      Location:350388
      BCL9; B-cell lymphoma 9 protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      147541501..147626219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005277418.4XP_005277475.1  B-cell CLL/lymphoma 9 protein isoform X3

      Conserved Domains (1) summary
      pfam11502
      Location:276314
      BCL9; B-cell lymphoma 9 protein
    2. XM_005277417.4XP_005277474.1  B-cell CLL/lymphoma 9 protein isoform X2

      Conserved Domains (1) summary
      pfam11502
      Location:350388
      BCL9; B-cell lymphoma 9 protein
    3. XM_005272971.4XP_005273028.1  B-cell CLL/lymphoma 9 protein isoform X1

      See identical proteins and their annotated locations for XP_005273028.1

      UniProtKB/Swiss-Prot
      O00512
      UniProtKB/TrEMBL
      A0A024QYY4
      Conserved Domains (1) summary
      pfam11502
      Location:350388
      BCL9; B-cell lymphoma 9 protein
    4. XM_017002026.1XP_016857515.1  B-cell CLL/lymphoma 9 protein isoform X3

      Conserved Domains (1) summary
      pfam11502
      Location:276314
      BCL9; B-cell lymphoma 9 protein
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