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    BCL7B BAF chromatin remodeling complex subunit BCL7B [ Homo sapiens (human) ]

    Gene ID: 9275, updated on 15-Apr-2019

    Summary

    Official Symbol
    BCL7Bprovided by HGNC
    Official Full Name
    BAF chromatin remodeling complex subunit BCL7Bprovided by HGNC
    Primary source
    HGNC:HGNC:1005
    See related
    Ensembl:ENSG00000106635 MIM:605846
    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
    Summary
    This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 30.9), testis (RPKM 18.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See BCL7B in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (73536353..73557735, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72950683..72972065, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene frizzled class receptor 9 Neighboring gene bromodomain adjacent to zinc finger domain 1B Neighboring gene RNA, U6 small nuclear 1198, pseudogene Neighboring gene transducin beta like 2 Neighboring gene MLX interacting protein like

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    NHGRI GWA Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of B-cell CLL/lymphoma 7B (BCL7B) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    biological_process ND
    No biological Data available
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    B-cell CLL/lymphoma 7 protein family member B
    Names
    B-cell CLL/lymphoma 7B
    BCL tumor suppressor 7B
    BCL7B, BAF complex component

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_027959.1 RefSeqGene

      Range
      5001..26383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001197244.1NP_001184173.1  B-cell CLL/lymphoma 7 protein family member B isoform 2

      See identical proteins and their annotated locations for NP_001184173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AL553260, AW328570, BC009548, BI837138
      Consensus CDS
      CCDS56489.1
      UniProtKB/Swiss-Prot
      Q9BQE9
      Related
      ENSP00000393230.1, ENST00000411832.5
      Conserved Domains (1) summary
      pfam04714
      Location:450
      BCL_N; BCL7, N-terminal conserver region
    2. NM_001301061.1NP_001287990.1  B-cell CLL/lymphoma 7 protein family member B isoform 3

      See identical proteins and their annotated locations for NP_001287990.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (3) has a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL525884, AL553260, AW328570, BC000956, BI603803
      Consensus CDS
      CCDS75613.1
      UniProtKB/Swiss-Prot
      Q9BQE9
      UniProtKB/TrEMBL
      F2Z3H6
      Related
      ENSP00000411073.2, ENST00000455335.2
      Conserved Domains (2) summary
      pfam04714
      Location:4261
      BCL_N; BCL7, N-terminal conserver region
      pfam13900
      Location:742
      GVQW; Putative domain of unknown function
    3. NM_001707.4NP_001698.2  B-cell CLL/lymphoma 7 protein family member B isoform 1

      See identical proteins and their annotated locations for NP_001698.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL553260, AW328570, BC009548
      Consensus CDS
      CCDS5550.1
      UniProtKB/Swiss-Prot
      Q9BQE9
      Related
      ENSP00000223368.2, ENST00000223368.7
      Conserved Domains (1) summary
      pfam04714
      Location:450
      BCL_N; BCL7, N-terminal conserver region

    RNA

    1. NR_036682.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, as compared to variant 1. The transcript lacks a valid open reading frame and does not encode a protein.
      Source sequence(s)
      AW328570, BC001967, BQ109412, DA688517
      Related
      ENST00000482231.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      73536353..73557735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138707.1: Suppressed sequence

      Description
      NM_138707.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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