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

Gene ID: 9275, updated on 7-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73536356..73557690, 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 Functions

What'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
    5046..26380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001197244.2NP_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)
    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_001301061.2NP_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, 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_036682.2 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)
    BC001967, BQ109412, DA688517
    Related
    ENST00000482231.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    73536356..73557690 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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