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BCL7A BAF chromatin remodeling complex subunit BCL7A [ Homo sapiens (human) ]

Gene ID: 605, updated on 5-Aug-2022

Summary

Official Symbol
BCL7Aprovided by HGNC
Official Full Name
BAF chromatin remodeling complex subunit BCL7Aprovided by HGNC
Primary source
HGNC:HGNC:1004
See related
Ensembl:ENSG00000110987 MIM:601406; AllianceGenome:HGNC:1004
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
BCL7; SMARCJ1
Summary
This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 10.8), lymph node (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

See BCL7A in Genome Data Viewer
Location:
12q24.31
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122021884..122062044)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122017688..122057841)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122459790..122499950)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2985/8376 Neighboring gene cilia and flagella associated protein 251 Neighboring gene uncharacterized LOC124903038 Neighboring gene Sharpr-MPRA regulatory region 8907 Neighboring gene long intergenic non-protein coding RNA 2985 Neighboring gene MLX interacting protein Neighboring gene Sharpr-MPRA regulatory region 11163

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

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of GBAF complex IC
Inferred by Curator
more info
PubMed 
part_of SWI/SNF complex IC
Inferred by Curator
more info
PubMed 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
B-cell CLL/lymphoma 7 protein family member A
Names
B-cell CLL/lymphoma 7A
B-cell CLL/lymphoma-7
BCL tumor suppressor 7A
BCL7A, BAF complex component

NCBI Reference Sequences (RefSeq)

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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_001024808.3NP_001019979.1  B-cell CLL/lymphoma 7 protein family member A isoform b

    See identical proteins and their annotated locations for NP_001019979.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC069503, AC156455, AK296159
    Consensus CDS
    CCDS53841.1
    UniProtKB/Swiss-Prot
    Q14CT7, Q4VC05
    Related
    ENSP00000261822.5, ENST00000261822.5
    Conserved Domains (2) summary
    PHA02664
    Location:72205
    PHA02664; hypothetical protein; Provisional
    pfam04714
    Location:450
    BCL_N; BCL7, N-terminal conserver region
  2. NM_020993.5NP_066273.1  B-cell CLL/lymphoma 7 protein family member A isoform a

    See identical proteins and their annotated locations for NP_066273.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC069503, AC156455, AK296159, X89984
    Consensus CDS
    CCDS9226.1
    UniProtKB/Swiss-Prot
    Q4VC05
    Related
    ENSP00000445868.1, ENST00000538010.5
    Conserved Domains (1) summary
    pfam04714
    Location:450
    BCL_N; BCL7, N-terminal conserver region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    122021884..122062044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332697.1 Reference GRCh38.p14 PATCHES

    Range
    1356..4310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    122017688..122057841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)